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Martin)] TJ ET 0.271 0.267 0.267 rg BT 167.693 688.195 Td /F1 9.8 Tf [(, )] TJ ET 0.267 0.267 0.267 rg BT 173.114 688.195 Td /F1 9.8 Tf [(Holly L. Peay)] TJ ET 0.271 0.267 0.267 rg BT 26.250 676.290 Td /F1 9.8 Tf [(Rangel V, Martin AS, Peay HL. DuchenneConnect Registry Report. PLOS Currents Muscular Dystrophy. 2012 Mar 5 . Edition )] TJ ET BT 569.754 676.290 Td /F1 9.8 Tf [(1. )] TJ ET BT 26.250 664.386 Td /F1 9.8 Tf [(doi: 10.1371/currents.RRN1309.)] TJ ET q 15.000 32.197 577.500 629.807 re W n 0.271 0.267 0.267 rg BT 26.250 635.283 Td /F4 12.0 Tf [(Abstract)] TJ ET BT 26.250 615.329 Td /F1 9.8 Tf [(Research activity in Duchenne/Becker muscular dystrophy has surged in recent years, requiring robust information networks to )] TJ ET BT 26.250 603.424 Td /F1 9.8 Tf [(support ongoing development. Established by Parent Project Muscular Dystrophy in late 2007, DuchenneConnect was created )] TJ ET BT 26.250 591.519 Td /F1 9.8 Tf [(to bridge the information gap between care providers, researchers and the patient community, thereby addressing medical care )] TJ ET BT 26.250 579.615 Td /F1 9.8 Tf [(needs and accelerating the pace of therapeutic advancements. This report represents the first in a new series that will be )] TJ ET BT 26.250 567.710 Td /F1 9.8 Tf [(regularly shared by DuchenneConnect and PPMD. Data in this report was collected through June 2011.)] TJ ET BT 26.250 531.107 Td /F4 12.0 Tf [(Funding Statement)] TJ ET BT 26.250 511.153 Td /F1 9.8 Tf [(DuchenneConnect is supported by Parent Project Muscular Dystrophy.)] TJ ET BT 26.250 482.051 Td /F4 12.0 Tf [(Background)] TJ ET BT 26.250 462.096 Td /F1 9.8 Tf [(Research activity in Duchenne and Becker muscular dystrophy \(DBMD\) has surged in recent years, requiring robust information )] TJ ET BT 26.250 450.192 Td /F1 9.8 Tf [(networks to support therapeutic development. As of November 2011, Clinicaltrials.gov lists more than 10 active clinical trials in )] TJ ET BT 26.250 438.287 Td /F1 9.8 Tf [(DBMD \(www.clinicaltrials.gov\). In addition, the publication in 2010 of care recommendations for Duchenne \()] TJ ET 0.267 0.267 0.267 rg BT 489.541 438.287 Td /F1 9.8 Tf [([1][2])] TJ ET 0.271 0.267 0.267 rg BT 511.225 438.287 Td /F1 9.8 Tf [(\) marked a )] TJ ET BT 26.250 426.382 Td /F1 9.8 Tf [(watershed moment for families affected by and clinicians caring for individuals with DBMD.)] TJ ET BT 26.250 406.977 Td /F1 9.8 Tf [(This recent progress makes close communication between stakeholders in the DBMD community even more vital, e.g., to )] TJ ET BT 26.250 395.073 Td /F1 9.8 Tf [(disseminate and educate about care recommendations, provide feasibility data to researchers and industry, collect natural )] TJ ET BT 26.250 383.168 Td /F1 9.8 Tf [(history data, and facilitate recruitment into research studies. Established by Parent Project Muscular Dystrophy in late 2007, )] TJ ET BT 26.250 371.263 Td /F1 9.8 Tf [(DuchenneConnect was created to bridge the information gap between care providers, researchers and the patient community, )] TJ ET BT 26.250 359.358 Td /F1 9.8 Tf [(thereby addressing medical care needs and accelerating the pace of therapeutic advancements.)] TJ ET BT 26.250 322.756 Td /F4 12.0 Tf [(The Registry Model)] TJ ET BT 26.250 302.802 Td /F1 9.8 Tf [(The registry model \(as described by PatientCrossroads, )] TJ ET 0.267 0.267 0.267 rg BT 269.542 302.802 Td /F1 9.8 Tf [(www.patientcrossroads.com)] TJ ET 0.271 0.267 0.267 rg BT 391.446 302.802 Td /F1 9.8 Tf [(\) describes an ideal registry process; this )] TJ ET BT 26.250 290.897 Td /F1 9.8 Tf [(model is consistent with and in part informed by the DuchenneConnect registry.)] TJ ET BT 26.250 271.492 Td /F5 9.8 Tf [(Foundations or institutions)] TJ ET BT 152.464 271.492 Td /F1 9.8 Tf [( sponsor registries, acting as the trusted gatekeeper.)] TJ ET BT 26.250 252.087 Td /F5 9.8 Tf [(Patients)] TJ ET BT 64.178 252.087 Td /F1 9.8 Tf [( register and provide detailed information about their health history.)] TJ ET BT 26.250 232.683 Td /F5 9.8 Tf [(Coordinators)] TJ ET BT 87.460 232.683 Td /F1 9.8 Tf [( curate patient data, answer questions, and assist with participation.)] TJ ET BT 26.250 213.278 Td /F5 9.8 Tf [(Clinicians/Researchers)] TJ ET BT 133.549 213.278 Td /F1 9.8 Tf [( have access to aggregated, de-identified patient data which serves as pilot data, to develop research )] TJ ET BT 26.250 201.373 Td /F1 9.8 Tf [(ideas, and to answer specific research questions.)] TJ ET BT 26.250 181.968 Td /F5 9.8 Tf [(Industry)] TJ ET BT 64.714 181.968 Td /F1 9.8 Tf [( uses the de-identified patient data for study planning and pre-screening for enrollment.)] TJ ET BT 26.250 145.366 Td /F4 12.0 Tf [(Duchenne Connect Registry)] TJ ET BT 26.250 125.412 Td /F1 9.8 Tf [(DuchenneConnect is a patient-report registry and educational resource for individuals with Duchenne and Becker muscular )] TJ ET BT 26.250 113.507 Td /F1 9.8 Tf [(dystrophy, carrier females, and families of affected individuals. The registry can be accessed at )] TJ ET 0.267 0.267 0.267 rg BT 438.626 113.507 Td /F1 9.8 Tf [(www.duchenneconnect.org)] TJ ET 0.271 0.267 0.267 rg BT 556.221 113.507 Td /F1 9.8 Tf [(. )] TJ ET BT 26.250 101.602 Td /F1 9.8 Tf [(Clinicians and researchers have been informed about the registry through presentations at professional and advocacy )] TJ ET BT 26.250 89.697 Td /F1 9.8 Tf [(conferences, targeted communications, and online outreach efforts. Affected individuals and families are often informed about )] TJ ET BT 26.250 77.793 Td /F1 9.8 Tf [(the registry by clinicians or learn about it through advocacy organizations.)] TJ ET BT 26.250 58.388 Td /F1 9.8 Tf [(Registry data is entered by parents/guardians of affected individuals, individuals with DBMD, and rarely by healthcare providers. )] TJ ET BT 26.250 46.483 Td /F1 9.8 Tf [(Each participants data is accessed through a unique ID and password, which maintains security and allows participants to )] TJ ET Q q 15.000 709.302 577.500 28.698 re W n 0.267 0.267 0.267 rg BT 15.000 718.042 Td /F2 21.0 Tf [(DuchenneConnect Registry Report)] TJ ET Q 0.271 0.267 0.267 rg BT 15.000 700.036 Td /F3 9.8 Tf [(March 5, 2012)] TJ ET BT 77.556 700.036 Td /F3 9.8 Tf [()] TJ ET 0.267 0.267 0.267 rg BT 82.431 700.036 Td /F3 9.8 Tf [(Epidemiology and Patient Registries)] TJ ET BT 26.250 688.195 Td /F1 9.8 Tf [(Vanessa Rangel)] TJ ET 0.271 0.267 0.267 rg BT 97.786 688.195 Td /F1 9.8 Tf [(, )] TJ ET 0.267 0.267 0.267 rg BT 103.207 688.195 Td /F1 9.8 Tf [(Anne S. Martin)] TJ ET 0.271 0.267 0.267 rg BT 167.693 688.195 Td /F1 9.8 Tf [(, )] TJ ET 0.267 0.267 0.267 rg BT 173.114 688.195 Td /F1 9.8 Tf [(Holly L. Peay)] TJ ET 0.271 0.267 0.267 rg BT 26.250 676.290 Td /F1 9.8 Tf [(Rangel V, Martin AS, Peay HL. DuchenneConnect Registry Report. PLOS Currents Muscular Dystrophy. 2012 Mar 5 . Edition )] TJ ET BT 569.754 676.290 Td /F1 9.8 Tf [(1. )] TJ ET BT 26.250 664.386 Td /F1 9.8 Tf [(doi: 10.1371/currents.RRN1309.)] TJ ET q 15.000 32.197 577.500 629.807 re W n 0.271 0.267 0.267 rg BT 26.250 635.283 Td /F4 12.0 Tf [(Abstract)] TJ ET BT 26.250 615.329 Td /F1 9.8 Tf [(Research activity in Duchenne/Becker muscular dystrophy has surged in recent years, requiring robust information networks to )] TJ ET BT 26.250 603.424 Td /F1 9.8 Tf [(support ongoing development. Established by Parent Project Muscular Dystrophy in late 2007, DuchenneConnect was created )] TJ ET BT 26.250 591.519 Td /F1 9.8 Tf [(to bridge the information gap between care providers, researchers and the patient community, thereby addressing medical care )] TJ ET BT 26.250 579.615 Td /F1 9.8 Tf [(needs and accelerating the pace of therapeutic advancements. This report represents the first in a new series that will be )] TJ ET BT 26.250 567.710 Td /F1 9.8 Tf [(regularly shared by DuchenneConnect and PPMD. Data in this report was collected through June 2011.)] TJ ET BT 26.250 531.107 Td /F4 12.0 Tf [(Funding Statement)] TJ ET BT 26.250 511.153 Td /F1 9.8 Tf [(DuchenneConnect is supported by Parent Project Muscular Dystrophy.)] TJ ET BT 26.250 482.051 Td /F4 12.0 Tf [(Background)] TJ ET BT 26.250 462.096 Td /F1 9.8 Tf [(Research activity in Duchenne and Becker muscular dystrophy \(DBMD\) has surged in recent years, requiring robust information )] TJ ET BT 26.250 450.192 Td /F1 9.8 Tf [(networks to support therapeutic development. As of November 2011, Clinicaltrials.gov lists more than 10 active clinical trials in )] TJ ET BT 26.250 438.287 Td /F1 9.8 Tf [(DBMD \(www.clinicaltrials.gov\). In addition, the publication in 2010 of care recommendations for Duchenne \()] TJ ET 0.267 0.267 0.267 rg BT 489.541 438.287 Td /F1 9.8 Tf [([1][2])] TJ ET 0.271 0.267 0.267 rg BT 511.225 438.287 Td /F1 9.8 Tf [(\) marked a )] TJ ET BT 26.250 426.382 Td /F1 9.8 Tf [(watershed moment for families affected by and clinicians caring for individuals with DBMD.)] TJ ET BT 26.250 406.977 Td /F1 9.8 Tf [(This recent progress makes close communication between stakeholders in the DBMD community even more vital, e.g., to )] TJ ET BT 26.250 395.073 Td /F1 9.8 Tf [(disseminate and educate about care recommendations, provide feasibility data to researchers and industry, collect natural )] TJ ET BT 26.250 383.168 Td /F1 9.8 Tf [(history data, and facilitate recruitment into research studies. Established by Parent Project Muscular Dystrophy in late 2007, )] TJ ET BT 26.250 371.263 Td /F1 9.8 Tf [(DuchenneConnect was created to bridge the information gap between care providers, researchers and the patient community, )] TJ ET BT 26.250 359.358 Td /F1 9.8 Tf [(thereby addressing medical care needs and accelerating the pace of therapeutic advancements.)] TJ ET BT 26.250 322.756 Td /F4 12.0 Tf [(The Registry Model)] TJ ET BT 26.250 302.802 Td /F1 9.8 Tf [(The registry model \(as described by PatientCrossroads, )] TJ ET 0.267 0.267 0.267 rg BT 269.542 302.802 Td /F1 9.8 Tf [(www.patientcrossroads.com)] TJ ET 0.271 0.267 0.267 rg BT 391.446 302.802 Td /F1 9.8 Tf [(\) describes an ideal registry process; this )] TJ ET BT 26.250 290.897 Td /F1 9.8 Tf [(model is consistent with and in part informed by the DuchenneConnect registry.)] TJ ET BT 26.250 271.492 Td /F5 9.8 Tf [(Foundations or institutions)] TJ ET BT 152.464 271.492 Td /F1 9.8 Tf [( sponsor registries, acting as the trusted gatekeeper.)] TJ ET BT 26.250 252.087 Td /F5 9.8 Tf [(Patients)] TJ ET BT 64.178 252.087 Td /F1 9.8 Tf [( register and provide detailed information about their health history.)] TJ ET BT 26.250 232.683 Td /F5 9.8 Tf [(Coordinators)] TJ ET BT 87.460 232.683 Td /F1 9.8 Tf [( curate patient data, answer questions, and assist with participation.)] TJ ET BT 26.250 213.278 Td /F5 9.8 Tf [(Clinicians/Researchers)] TJ ET BT 133.549 213.278 Td /F1 9.8 Tf [( have access to aggregated, de-identified patient data which serves as pilot data, to develop research )] TJ ET BT 26.250 201.373 Td /F1 9.8 Tf [(ideas, and to answer specific research questions.)] TJ ET BT 26.250 181.968 Td /F5 9.8 Tf [(Industry)] TJ ET BT 64.714 181.968 Td /F1 9.8 Tf [( uses the de-identified patient data for study planning and pre-screening for enrollment.)] TJ ET BT 26.250 145.366 Td /F4 12.0 Tf [(Duchenne Connect Registry)] TJ ET BT 26.250 125.412 Td /F1 9.8 Tf [(DuchenneConnect is a patient-report registry and educational resource for individuals with Duchenne and Becker muscular )] TJ ET BT 26.250 113.507 Td /F1 9.8 Tf [(dystrophy, carrier females, and families of affected individuals. The registry can be accessed at )] TJ ET 0.267 0.267 0.267 rg BT 438.626 113.507 Td /F1 9.8 Tf [(www.duchenneconnect.org)] TJ ET 0.271 0.267 0.267 rg BT 556.221 113.507 Td /F1 9.8 Tf [(. )] TJ ET BT 26.250 101.602 Td /F1 9.8 Tf [(Clinicians and researchers have been informed about the registry through presentations at professional and advocacy )] TJ ET BT 26.250 89.697 Td /F1 9.8 Tf [(conferences, targeted communications, and online outreach efforts. Affected individuals and families are often informed about )] TJ ET BT 26.250 77.793 Td /F1 9.8 Tf [(the registry by clinicians or learn about it through advocacy organizations.)] TJ ET BT 26.250 58.388 Td /F1 9.8 Tf [(Registry data is entered by parents/guardians of affected individuals, individuals with DBMD, and rarely by healthcare providers. )] TJ ET BT 26.250 46.483 Td /F1 9.8 Tf [(Each participants data is accessed through a unique ID and password, which maintains security and allows participants to )] TJ ET Q q 15.000 709.302 577.500 28.698 re W n 0.267 0.267 0.267 rg BT 15.000 718.042 Td /F2 21.0 Tf [(DuchenneConnect Registry Report)] TJ ET Q 0.271 0.267 0.267 rg BT 15.000 700.036 Td /F3 9.8 Tf [(March 5, 2012)] TJ ET BT 77.556 700.036 Td /F3 9.8 Tf [()] TJ ET 0.267 0.267 0.267 rg BT 82.431 700.036 Td /F3 9.8 Tf [(Epidemiology and Patient Registries)] TJ ET BT 26.250 688.195 Td /F1 9.8 Tf [(Vanessa Rangel)] TJ ET 0.271 0.267 0.267 rg BT 97.786 688.195 Td /F1 9.8 Tf [(, )] TJ ET 0.267 0.267 0.267 rg BT 103.207 688.195 Td /F1 9.8 Tf [(Anne S. Martin)] TJ ET 0.271 0.267 0.267 rg BT 167.693 688.195 Td /F1 9.8 Tf [(, )] TJ ET 0.267 0.267 0.267 rg BT 173.114 688.195 Td /F1 9.8 Tf [(Holly L. Peay)] TJ ET 0.271 0.267 0.267 rg BT 26.250 676.290 Td /F1 9.8 Tf [(Rangel V, Martin AS, Peay HL. DuchenneConnect Registry Report. PLOS Currents Muscular Dystrophy. 2012 Mar 5 . Edition )] TJ ET BT 569.754 676.290 Td /F1 9.8 Tf [(1. )] TJ ET BT 26.250 664.386 Td /F1 9.8 Tf [(doi: 10.1371/currents.RRN1309.)] TJ ET q 15.000 32.197 577.500 629.807 re W n 0.271 0.267 0.267 rg BT 26.250 635.283 Td /F4 12.0 Tf [(Abstract)] TJ ET BT 26.250 615.329 Td /F1 9.8 Tf [(Research activity in Duchenne/Becker muscular dystrophy has surged in recent years, requiring robust information networks to )] TJ ET BT 26.250 603.424 Td /F1 9.8 Tf [(support ongoing development. Established by Parent Project Muscular Dystrophy in late 2007, DuchenneConnect was created )] TJ ET BT 26.250 591.519 Td /F1 9.8 Tf [(to bridge the information gap between care providers, researchers and the patient community, thereby addressing medical care )] TJ ET BT 26.250 579.615 Td /F1 9.8 Tf [(needs and accelerating the pace of therapeutic advancements. This report represents the first in a new series that will be )] TJ ET BT 26.250 567.710 Td /F1 9.8 Tf [(regularly shared by DuchenneConnect and PPMD. Data in this report was collected through June 2011.)] TJ ET BT 26.250 531.107 Td /F4 12.0 Tf [(Funding Statement)] TJ ET BT 26.250 511.153 Td /F1 9.8 Tf [(DuchenneConnect is supported by Parent Project Muscular Dystrophy.)] TJ ET BT 26.250 482.051 Td /F4 12.0 Tf [(Background)] TJ ET BT 26.250 462.096 Td /F1 9.8 Tf [(Research activity in Duchenne and Becker muscular dystrophy \(DBMD\) has surged in recent years, requiring robust information )] TJ ET BT 26.250 450.192 Td /F1 9.8 Tf [(networks to support therapeutic development. As of November 2011, Clinicaltrials.gov lists more than 10 active clinical trials in )] TJ ET BT 26.250 438.287 Td /F1 9.8 Tf [(DBMD \(www.clinicaltrials.gov\). In addition, the publication in 2010 of care recommendations for Duchenne \()] TJ ET 0.267 0.267 0.267 rg BT 489.541 438.287 Td /F1 9.8 Tf [([1][2])] TJ ET 0.271 0.267 0.267 rg BT 511.225 438.287 Td /F1 9.8 Tf [(\) marked a )] TJ ET BT 26.250 426.382 Td /F1 9.8 Tf [(watershed moment for families affected by and clinicians caring for individuals with DBMD.)] TJ ET BT 26.250 406.977 Td /F1 9.8 Tf [(This recent progress makes close communication between stakeholders in the DBMD community even more vital, e.g., to )] TJ ET BT 26.250 395.073 Td /F1 9.8 Tf [(disseminate and educate about care recommendations, provide feasibility data to researchers and industry, collect natural )] TJ ET BT 26.250 383.168 Td /F1 9.8 Tf [(history data, and facilitate recruitment into research studies. Established by Parent Project Muscular Dystrophy in late 2007, )] TJ ET BT 26.250 371.263 Td /F1 9.8 Tf [(DuchenneConnect was created to bridge the information gap between care providers, researchers and the patient community, )] TJ ET BT 26.250 359.358 Td /F1 9.8 Tf [(thereby addressing medical care needs and accelerating the pace of therapeutic advancements.)] TJ ET BT 26.250 322.756 Td /F4 12.0 Tf [(The Registry Model)] TJ ET BT 26.250 302.802 Td /F1 9.8 Tf [(The registry model \(as described by PatientCrossroads, )] TJ ET 0.267 0.267 0.267 rg BT 269.542 302.802 Td /F1 9.8 Tf [(www.patientcrossroads.com)] TJ ET 0.271 0.267 0.267 rg BT 391.446 302.802 Td /F1 9.8 Tf [(\) describes an ideal registry process; this )] TJ ET BT 26.250 290.897 Td /F1 9.8 Tf [(model is consistent with and in part informed by the DuchenneConnect registry.)] TJ ET BT 26.250 271.492 Td /F5 9.8 Tf [(Foundations or institutions)] TJ ET BT 152.464 271.492 Td /F1 9.8 Tf [( sponsor registries, acting as the trusted gatekeeper.)] TJ ET BT 26.250 252.087 Td /F5 9.8 Tf [(Patients)] TJ ET BT 64.178 252.087 Td /F1 9.8 Tf [( register and provide detailed information about their health history.)] TJ ET BT 26.250 232.683 Td /F5 9.8 Tf [(Coordinators)] TJ ET BT 87.460 232.683 Td /F1 9.8 Tf [( curate patient data, answer questions, and assist with participation.)] TJ ET BT 26.250 213.278 Td /F5 9.8 Tf [(Clinicians/Researchers)] TJ ET BT 133.549 213.278 Td /F1 9.8 Tf [( have access to aggregated, de-identified patient data which serves as pilot data, to develop research )] TJ ET BT 26.250 201.373 Td /F1 9.8 Tf [(ideas, and to answer specific research questions.)] TJ ET BT 26.250 181.968 Td /F5 9.8 Tf [(Industry)] TJ ET BT 64.714 181.968 Td /F1 9.8 Tf [( uses the de-identified patient data for study planning and pre-screening for enrollment.)] TJ ET BT 26.250 145.366 Td /F4 12.0 Tf [(Duchenne Connect Registry)] TJ ET BT 26.250 125.412 Td /F1 9.8 Tf [(DuchenneConnect is a patient-report registry and educational resource for individuals with Duchenne and Becker muscular )] TJ ET BT 26.250 113.507 Td /F1 9.8 Tf [(dystrophy, carrier females, and families of affected individuals. The registry can be accessed at )] TJ ET 0.267 0.267 0.267 rg BT 438.626 113.507 Td /F1 9.8 Tf [(www.duchenneconnect.org)] TJ ET 0.271 0.267 0.267 rg BT 556.221 113.507 Td /F1 9.8 Tf [(. )] TJ ET BT 26.250 101.602 Td /F1 9.8 Tf [(Clinicians and researchers have been informed about the registry through presentations at professional and advocacy )] TJ ET BT 26.250 89.697 Td /F1 9.8 Tf [(conferences, targeted communications, and online outreach efforts. 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Participant data is curated by the DuchenneConnect Coordinator and we request updates to participant )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(profiles every 6-12 months. Data are maintained in a HIPAA-compliant database. This article provides descriptive data collected )] TJ ET BT 26.250 743.667 Td /F1 9.8 Tf [(from the DuchenneConnect registry between November 2007 and June 2011. The DuchenneConnect registry data is exempt )] TJ ET BT 26.250 731.762 Td /F1 9.8 Tf [(from IRB review as existing data that is publically available in a de-identified format.)] TJ ET BT 26.250 695.159 Td /F4 12.0 Tf [(Uses of Duchenne Connect)] TJ ET BT 26.250 675.205 Td /F1 9.8 Tf [(DuchenneConnect is used to educate families about research, inform about natural history, facilitate economic modeling and )] TJ ET BT 26.250 663.300 Td /F1 9.8 Tf [(feasibility planning for industry, and serves as a recruitment tool. Increasingly, DuchenneConnect is partnering with academic )] TJ ET BT 26.250 651.396 Td /F1 9.8 Tf [(partners to collect additional data to answer specific hypotheses about the health and psychological effects of DBMD. See Table )] TJ ET BT 26.250 639.491 Td /F1 9.8 Tf [(1 for more detail about research announcements through DuchenneConnect.)] TJ ET q 450.000 0 0 225.750 26.250 403.860 cm /I4 Do Q BT 26.250 386.836 Td /F4 9.8 Tf [(Table 1. Announcements by the DuchenneConnect Registry.)] TJ ET BT 26.250 367.431 Td /F1 9.8 Tf [(In addition to the connection to front-line information about opportunities to participate in research, participants rely on the )] TJ ET BT 26.250 355.527 Td /F1 9.8 Tf [(DuchenneConnect program as a source of expert knowledge about clinical care, genetics, and research participation. )] TJ ET BT 26.250 343.622 Td /F1 9.8 Tf [(Participants have access to the Connect Coordinator \(a certified genetic counselor\), the registry team, and advisors. To date, )] TJ ET BT 26.250 331.717 Td /F1 9.8 Tf [(more than 1,000 questions have been asked of the DuchenneConnect team \(see Figure 1\).)] TJ ET 0.965 0.965 0.965 rg 26.250 141.932 555.000 179.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 321.836 m 581.250 321.836 l 581.250 321.086 l 26.250 321.086 l f 26.250 141.932 m 581.250 141.932 l 581.250 142.682 l 26.250 142.682 l f q 225.000 0 0 135.000 35.250 177.086 cm /I5 Do Q q 35.250 153.182 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 161.562 Td /F4 9.8 Tf [(Fig. 1: Categories of questions asked to registry staff.)] TJ ET Q BT 26.250 107.710 Td /F4 12.0 Tf [(Summary of Participants)] TJ ET Q q 15.000 30.256 577.500 746.744 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(update their data. Participant data is curated by the DuchenneConnect Coordinator and we request updates to participant )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(profiles every 6-12 months. Data are maintained in a HIPAA-compliant database. This article provides descriptive data collected )] TJ ET BT 26.250 743.667 Td /F1 9.8 Tf [(from the DuchenneConnect registry between November 2007 and June 2011. The DuchenneConnect registry data is exempt )] TJ ET BT 26.250 731.762 Td /F1 9.8 Tf [(from IRB review as existing data that is publically available in a de-identified format.)] TJ ET BT 26.250 695.159 Td /F4 12.0 Tf [(Uses of Duchenne Connect)] TJ ET BT 26.250 675.205 Td /F1 9.8 Tf [(DuchenneConnect is used to educate families about research, inform about natural history, facilitate economic modeling and )] TJ ET BT 26.250 663.300 Td /F1 9.8 Tf [(feasibility planning for industry, and serves as a recruitment tool. Increasingly, DuchenneConnect is partnering with academic )] TJ ET BT 26.250 651.396 Td /F1 9.8 Tf [(partners to collect additional data to answer specific hypotheses about the health and psychological effects of DBMD. See Table )] TJ ET BT 26.250 639.491 Td /F1 9.8 Tf [(1 for more detail about research announcements through DuchenneConnect.)] TJ ET q 450.000 0 0 225.750 26.250 403.860 cm /I7 Do Q BT 26.250 386.836 Td /F4 9.8 Tf [(Table 1. Announcements by the DuchenneConnect Registry.)] TJ ET BT 26.250 367.431 Td /F1 9.8 Tf [(In addition to the connection to front-line information about opportunities to participate in research, participants rely on the )] TJ ET BT 26.250 355.527 Td /F1 9.8 Tf [(DuchenneConnect program as a source of expert knowledge about clinical care, genetics, and research participation. )] TJ ET BT 26.250 343.622 Td /F1 9.8 Tf [(Participants have access to the Connect Coordinator \(a certified genetic counselor\), the registry team, and advisors. To date, )] TJ ET BT 26.250 331.717 Td /F1 9.8 Tf [(more than 1,000 questions have been asked of the DuchenneConnect team \(see Figure 1\).)] TJ ET 0.965 0.965 0.965 rg 26.250 141.932 555.000 179.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 321.836 m 581.250 321.836 l 581.250 321.086 l 26.250 321.086 l f 26.250 141.932 m 581.250 141.932 l 581.250 142.682 l 26.250 142.682 l f q 225.000 0 0 135.000 35.250 177.086 cm /I5 Do Q q 35.250 153.182 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 161.562 Td /F4 9.8 Tf [(Fig. 1: Categories of questions asked to registry staff.)] TJ ET Q BT 26.250 107.710 Td /F4 12.0 Tf [(Summary of Participants)] TJ ET Q q 15.000 30.256 577.500 746.744 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(update their data. Participant data is curated by the DuchenneConnect Coordinator and we request updates to participant )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(profiles every 6-12 months. Data are maintained in a HIPAA-compliant database. This article provides descriptive data collected )] TJ ET BT 26.250 743.667 Td /F1 9.8 Tf [(from the DuchenneConnect registry between November 2007 and June 2011. The DuchenneConnect registry data is exempt )] TJ ET BT 26.250 731.762 Td /F1 9.8 Tf [(from IRB review as existing data that is publically available in a de-identified format.)] TJ ET BT 26.250 695.159 Td /F4 12.0 Tf [(Uses of Duchenne Connect)] TJ ET BT 26.250 675.205 Td /F1 9.8 Tf [(DuchenneConnect is used to educate families about research, inform about natural history, facilitate economic modeling and )] TJ ET BT 26.250 663.300 Td /F1 9.8 Tf [(feasibility planning for industry, and serves as a recruitment tool. Increasingly, DuchenneConnect is partnering with academic )] TJ ET BT 26.250 651.396 Td /F1 9.8 Tf [(partners to collect additional data to answer specific hypotheses about the health and psychological effects of DBMD. See Table )] TJ ET BT 26.250 639.491 Td /F1 9.8 Tf [(1 for more detail about research announcements through DuchenneConnect.)] TJ ET q 450.000 0 0 225.750 26.250 403.860 cm /I9 Do Q BT 26.250 386.836 Td /F4 9.8 Tf [(Table 1. Announcements by the DuchenneConnect Registry.)] TJ ET BT 26.250 367.431 Td /F1 9.8 Tf [(In addition to the connection to front-line information about opportunities to participate in research, participants rely on the )] TJ ET BT 26.250 355.527 Td /F1 9.8 Tf [(DuchenneConnect program as a source of expert knowledge about clinical care, genetics, and research participation. )] TJ ET BT 26.250 343.622 Td /F1 9.8 Tf [(Participants have access to the Connect Coordinator \(a certified genetic counselor\), the registry team, and advisors. To date, )] TJ ET BT 26.250 331.717 Td /F1 9.8 Tf [(more than 1,000 questions have been asked of the DuchenneConnect team \(see Figure 1\).)] TJ ET 0.965 0.965 0.965 rg 26.250 141.932 555.000 179.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 321.836 m 581.250 321.836 l 581.250 321.086 l 26.250 321.086 l f 26.250 141.932 m 581.250 141.932 l 581.250 142.682 l 26.250 142.682 l f q 225.000 0 0 135.000 35.250 177.086 cm /I5 Do Q q 35.250 153.182 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 161.562 Td /F4 9.8 Tf [(Fig. 1: Categories of questions asked to registry staff.)] TJ ET Q BT 26.250 107.710 Td /F4 12.0 Tf [(Summary of Participants)] TJ ET Q q 225.000 0 0 135.000 35.250 177.086 cm /I5 Do Q q 0.000 0.000 0.000 rg BT 291.710 19.825 Td /F1 11.0 Tf [(2)] TJ ET BT 25.000 19.825 Td /F1 11.0 Tf [(PLOS Currents Muscular Dystrophy)] TJ ET Q endstream endobj 65 0 obj << /Type /XObject /Subtype /Image /Width 600 /Height 301 /Filter /FlateDecode /DecodeParms << /Predictor 15 /Colors 1 /Columns 600 /BitsPerComponent 8>> /ColorSpace /DeviceGray /BitsPerComponent 8 /Length 781>> stream xA 0 =" ʝ<2;EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$EX$Ebw endstream endobj 66 0 obj << /Type /XObject /Subtype /Image /Width 600 /Height 301 /SMask 65 0 R /Filter /FlateDecode /DecodeParms << /Predictor 15 /Colors 3 /Columns 600 /BitsPerComponent 8>> /ColorSpace /DeviceRGB /BitsPerComponent 8 /Length 58662>> stream xw|TU=IB "`Æk_׊+뺺VֲV,4:RB'HϤM&}2IfRPWTx;<99;gfw^x^~TM p<9ysnNNp <9yszNqS\&p<9yszNG@xs</8|ys烚38@Kys烖S8)4]<9y>9:$8^<9y>9ECGB@xs<$! {"BH,;,& +U4~'٬f@mpT˲EpZ<a%on[D*H?fV*K)j@}e[-H;. b%a,K1߱]xs_!Ctx]m-ŏ׆+zwo;gdt|]2GK-bU$[{/SR)N}/?p*F-VraJSrcr557x}~օcm='<#)=sۻdSn^L8PκuV~N掻aRlkom+8rr&d~wJN)F=A~ 9g7oz|s \\RT@;)2JW}Yx2 LUmfy%oˇ{u-|JLLgPyfse1tvQCc+F>s\Rx{%nSTWUMN`~x2 8gK:[YU)py/a~tskӁjk+ܮVon=ZrsGm.ߢP! qgWgs~=I}B8|1 gxzWv7e}$WEdfTug]ڬn@hIׅi߿?"6)qCS/%i;˷V2WgM|K ջ߫78qJ%?xTɎMوIw3@EU7n\28G#sqTjb2 ߟ:n t(ood# +N3bmE\t[LnOϞ.xJa6}%-I7-NU~~w|)+S I+zq/jCQ513nsi1e-gbr4:N[t y̷|ujg>F&DUyQ`n 68gC3nدE2U_pfW3\uikXēYmsBE 4) IwN}/iICLjDjEZȼtϚ0Uw=$3c^Sܴ*C~W6:vư9eA4*Ql *mn/jQ;Ԕi2'ɹ2]iU?!S=Wgѝ=j;(2Dk8ڋϞ?UM6 1Xr0@ eipu40i]PGZb-,jg 4x8&"c&B-$>̉FU{^Ys iDflFutTn뽽ڝ8:ʷ67z$yvBbLMq8&/2Zq$Z0$~dQx%LGoG7vp R&dž}q YpxI4!>{T* ijJ2Id:lhI' :Pd\l/;{(OeYw4zښflBM2b+0sb0V7tbӕ)Ҵa+>cKk\r9_&k K3 ^Et/*B8UոF}ҲsF~f1Y80964q#ei'87ι/uxCQ ͜:3|~zPR˸^!L-k7'G/ԊKlj7r'%9iaٰ64\ܥbf{ӑwkZxEUg] 6o{p0Vޜs =7\z:;7TCX@dC) J~%UZZY]qP{pآ 4aNDƖGWԻݐ2.6rpK1u62B(:ɽ,f'!8w=.;ٴ-jh욲:!KRto]n@JpEG"tÇ|yjsl^/]W0;b;҈]oAb&,5;xS؄u F X/l.=UguM^PE0L5JKø# `*Pj!n<s&~QWVq8wۉҽRNңwꥦg^wh{nbl:Z, n2;$,sAUQ2x6"E,p- $&N=\r MȻ 誯Fϩo/Nz#\M)M~r˂%<~AϺ鍜tuySqoYs֚=Vozo- Y\w}g?d?/'*[NS%zk 8}\PQt\ VW(?v |OQbMe-Wpv[[w 9tOy5z%[,ٜFl-{*{Uw|v6TaQk9Jn9go}XcCKϜ(gf4RwKmjvuK l^ȳ К6 v'+}%N4ֹCrb 쩿5UZܱZdnJߥ{r6K{׌bjo.?`UE Wyua7`ɇ jyܕt[ |q48w@h8l'6/Xec$F;LM\RJ72H"dxN;vn77ZbAB(P6ˍ^n% @o#*~FH_\*sv-q.P\ pa#g[K;-Ψ\:ttn2pdv8yCԿ_wJaIJLXnS6ohcG2@࠘&8x-Q^(.OaMJyWHD =RԴ9*ݎO8m4k䏏h҆K؈}fkY}kgXaiO {Uת {'%Pum;N2OS SeZ1jO}g'O1s|.`7c%nLܜQ7=V{1&j" K#O"^kOS;fZȹUx4Z@DO°;G*/;{='4g\xRjthm :j(c&>P UƏT:5WU `r4jEv7Cp`)mm--a84CKu7F3"/YG3[%#{嫏nfq3)\N TFV}H F l8n=c JY I?\ODHscz@hV tp^o`HXR-[/O6r6G{n}v0?cֿO)b冮s]Fݑr -n]V *n2s+RЛrΏ fG&D G"2Mm 6$EMQ {5b&^ĜVdvVۣ?EkEx.|92@jIM-^Ŝ^i3X@pmf#ǁ#.s3l. l&.[ $n8w=\$}a=a/idj c2]y= `E&elpyҁRhXʹ?._>|GE7x~ZZre ܿ^=-UʷwJ`mwd_"h8wԩ+Ά (?ܯ}RF,?{ظnN)^<۬!sOb|\ FC &R’yxlt<.7WoKXEǽo~8lk @KMn74E.Sco@Ы!!WH [icY@QNLWge4t츨0XkJ^4l"N}7GMQ-`u9''ngvEko<+)x{k}IwkMV_>T׶ WFB %4j}(4+N:4hQBpr4.?}<8&|TZnl6pu:u4Gzύ>7ڇ5匮{aoKZNt=.1ChVLѬ4|voqB&}aZBJ*n?;W887?Y>y׏eUOtt,c'C" ۜ q•y,8)V(YtRv8uwB $ mudGjz"Vqp59oC]9qaBTZ45guͭ&^O(2.],4ux֖| Ґ7.usszǁn/铈ȡ+YFq8 \lpZ1ifKL`DC<ڹ3ShJ=D2@842.UPQ=a/ ɐs,  DSOzB?⃲O6|b8KN71736fԨM[F3b5M =ܷ 7^Q2+ƍ1uH&1ڸy~bΞ;CEg hQdDmhW>֪Y[祵X#MQ4 'N׭34BOKq(cF,MWh=Vdhp|L9m>r+v3mQkGK"k Dlܩ7("B4i^Lv}C+KEQ9VYBXeSkR̈gO-4KDDsPe~_(s~4VwHR6%L+k;(R)/ӦF.|ܿ|<ݝuxaKnc&# ~#cgHE3(_߇s^ȇF 9?<ͽ;F Jcsi(i }轔9ys|q9 <9y>h9Eг<9yA{k2<9y>(K<97 ̑J<97p <-xs<@|y <93=,<9y>98<9ysx/[q=!s< #L'ys烙6t§-<9ysr4ڍ ys<9Bt"Xxs<B`}<9=z){<9y>9Ņ&xs< [Axs<sxs<̼K9ܔs8>9ys|s*ϐ<9y_^8<9yszNq!@xs<̜ D<9yA+B ҿ8<9?G<9= n ys烝>>AP ys <9=8;_<9y)7Er `Y6<9y>9]mV //R׽` q5<9yszNu/ys<Ĝ 9ys<8N'ZtΟ^x% p- ^xEZ!2[|O䅗E{?xstI <9B}GHu9y ,9Q<3L / yrgBZpYŇ?3cߓSSZ/jm$a]NJi<%O)3>Ru |>mbEEy~r;V;C_ ʟ0> _=R&wGNu~M $nzlR䒔TOOL#\G6qi{;* |mkR+_qGO?cxU˚̜Rؼpc1FĒkRg7WƇ]4=>nnnj?$EݟΊ}+WDn=>sTe7׭zkO̼L0݇%dq a|k\ew}M}\|O^G[cmM :Wx]f !q q~Q([{K6FDU??QW]awn߯cSKf#c\t=CUM?wJ;x`{.}߆n)zouzW^+6ʝ7yw?Zky8&g].JPV}3N*j]^\oz۟lR-\4K\ey

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9 !^KO^TҮ:s_'mZ:-k?h 7f؁t**7jo2v_2bƔw46㉝_Ξp^]׿sΥol~ܶbUTB7qѯk9 JyD_ 9%6(8N%JZFXZoI~!zԏ\ӫsAcQ]xцkt6A\y]zCdB=CŠyGbs+ WسKR Z#*|cnm2Eع}ܡ-ܬw~=oL1/@⠩NzϞgys2-6ƿ;vxrZ) O$=hro8<h3<%  Sj8w3¼8)[C+*=7 7BH'?_Yav{Woo[xVfnem\ڗKtNUnZTo²6UY;.ݸꫮz~\Jꑿs]qłFo*s̚ ^$pv~Cꐬt"_sϙPsiaAz3O29eI1`-/D<~mz~7ܷ7~cΐԆտT}J?8qP~Sㅬ=6>VI~LH_ ;MH}bޏݱ(U;孽<>>mۿNԬD5JՅ?Ί6*v.>1qxT4=0r~in#MkÓx{-\!G|_ioe-|[ L'BxvybqC#l/9-}9Syιե=k6]]r [Rc/ 8%8_өͫdžNB=WRZH=Q*@qJ ܅׬Kϳr{_{5, ӣvP]|tIտsLd gTNqBY.'&U^p͙GPm |Uɝ6_46g9c VZ2~gL] 'mXʴ)f:%vL\Go?`k~/ |z¼q&SꦅxZx|#BU9`.7H{c>|mقSSN(7O=jk!ATsUl޺nŚ]|;FTqaq.FȷhB*ΒKaS<%gYYjaܛg|!8Թ:Oh-lJyяDa)3+LG z->y3Ǐ q/N?zϮK2N^u ?x|]W#zeK*ҳrL}9oYޭC!Jtp{NTL[NP{5/xqQC7;|SEPTR!;_m䍷}=erݽOHx!:˹<՜-Zmu͔6[˝D"zo {1p- !D0.uoj_kPTHi06JyJiZ Rwp&+}-C @^P 6D~<20֗ʈ0O}n/ ;?&MIw+~dԡSsʷExRyԧڅ*Pk);z`wQqm7 %yr5vZA(UV]mG0-`=^g JRj0/.!R8nuwjP}z(>TᮄPg&?ufJLͩ,EN2 B~d\9d5M蘬iKd +Z%3/OzΘ KvzCF Q2 B'">6X)#eJC@]6^OH9|yTF4@]asvZKk[aQ?kxu-{4sVWL5qpZU% iT[)/?t@eCAO~&`uOVڽgڨ|b=^儣kI-_g$n~eND&zb̡ 9ۃBRO/suEFV.縸^eDF2h;`Z6,*ҮTp'vϴi: {o#EzIsJ080[/P,S&O%# zJq6ң}ô__'9a̐eHȞlɩ+& )I]E?8^ҿz$bmakR"p[8w2aq[pBoHDr7B*L7'ƥHJnJ)amgxSnlfG)a{6PwF(=n.3 endstream endobj 76 0 obj << /Type /Annot /Subtype /Link /A 77 0 R /Border [0 0 0] /H /I /Rect [ 35.2500 177.0863 260.2500 312.0863 ] >> endobj 77 0 obj << /Type /Action /S /URI /URI (http://currents.plos.org/md/files/2012/04/DuchCon-Fig1.jpg) >> endobj 78 0 obj << /Type /Page /Parent 3 0 R /Annots [ 80 0 R 83 0 R 88 0 R 90 0 R 94 0 R 96 0 R ] /Contents 79 0 R >> endobj 79 0 obj << /Length 7951 >> stream 0.271 0.267 0.267 rg q 15.000 23.833 577.500 753.167 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(DuchenneConnect is the largest US-based registry of Duchenne/Becker muscular dystrophy. As of June 2011, the registry )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(represents 1,595 patients with muscular dystrophy, 98 carrier or at-risk females and more than 300 professionals with an )] TJ ET BT 26.250 743.667 Td /F1 9.8 Tf [(interest in muscular dystrophy \(see Figure 2\). Of all patient participants, 69% \(n= 1213\) have submitted a health history survey. )] TJ ET BT 26.250 731.762 Td /F1 9.8 Tf [(Eighty six percent \(n=1366\) of patient participants report having genetic testing, of which 47% \(n= 647\) have submitted a copy )] TJ ET BT 26.250 719.857 Td /F1 9.8 Tf [(of their genetic test results. See Figure 3 for a description of participant characteristics.)] TJ ET 0.965 0.965 0.965 rg 26.250 509.821 555.000 200.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 709.976 m 581.250 709.976 l 581.250 709.226 l 26.250 709.226 l f 26.250 509.822 m 581.250 509.822 l 581.250 510.572 l 26.250 510.572 l f q 225.000 0 0 155.250 35.250 544.976 cm /I10 Do Q q 35.250 521.072 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 529.452 Td /F4 9.8 Tf [(Fig. 2: Annual total registrations by year Nov 2007 June 2011.)] TJ ET Q 0.965 0.965 0.965 rg 26.250 298.417 555.000 203.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 502.322 m 581.250 502.322 l 581.250 501.572 l 26.250 501.572 l f 26.250 298.417 m 581.250 298.417 l 581.250 299.167 l 26.250 299.167 l f q 225.000 0 0 159.000 35.250 333.572 cm /I11 Do Q q 35.250 309.667 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 318.048 Td /F4 9.8 Tf [(Fig. 3: Diagnosis reported by registry participants.)] TJ ET Q BT 26.250 281.393 Td /F4 9.8 Tf [(Demographics)] TJ ET BT 26.250 261.988 Td /F1 9.8 Tf [(The mean age of participants with Duchenne is 15.0 years \(range 8mos-64y\) and for participants with Becker is 26.6 years )] TJ ET BT 26.250 250.083 Td /F1 9.8 Tf [(\(range 1.3y-69y\). See distribution data in Table 2.)] TJ ET q 450.000 0 0 153.750 26.250 86.452 cm /I13 Do Q BT 26.250 69.429 Td /F4 9.8 Tf [(Table 2. Summary of registry participants as of June 2011. Patients include those with Duchenne, Becker, and )] TJ ET BT 26.250 57.524 Td /F4 9.8 Tf [(Intermediate muscular dystrophy.)] TJ ET BT 26.250 38.119 Td /F1 9.8 Tf [(The majority of participants \(77%\) chose Caucasian as their racial background. Though Duchenne/Becker is presumed to be )] TJ ET Q q 15.000 23.833 577.500 753.167 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(DuchenneConnect is the largest US-based registry of Duchenne/Becker muscular dystrophy. As of June 2011, the registry )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(represents 1,595 patients with muscular dystrophy, 98 carrier or at-risk females and more than 300 professionals with an )] TJ ET BT 26.250 743.667 Td /F1 9.8 Tf [(interest in muscular dystrophy \(see Figure 2\). Of all patient participants, 69% \(n= 1213\) have submitted a health history survey. )] TJ ET BT 26.250 731.762 Td /F1 9.8 Tf [(Eighty six percent \(n=1366\) of patient participants report having genetic testing, of which 47% \(n= 647\) have submitted a copy )] TJ ET BT 26.250 719.857 Td /F1 9.8 Tf [(of their genetic test results. See Figure 3 for a description of participant characteristics.)] TJ ET 0.965 0.965 0.965 rg 26.250 509.821 555.000 200.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 709.976 m 581.250 709.976 l 581.250 709.226 l 26.250 709.226 l f 26.250 509.822 m 581.250 509.822 l 581.250 510.572 l 26.250 510.572 l f q 225.000 0 0 155.250 35.250 544.976 cm /I10 Do Q q 35.250 521.072 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 529.452 Td /F4 9.8 Tf [(Fig. 2: Annual total registrations by year Nov 2007 June 2011.)] TJ ET Q 0.965 0.965 0.965 rg 26.250 298.417 555.000 203.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 502.322 m 581.250 502.322 l 581.250 501.572 l 26.250 501.572 l f 26.250 298.417 m 581.250 298.417 l 581.250 299.167 l 26.250 299.167 l f q 225.000 0 0 159.000 35.250 333.572 cm /I11 Do Q q 35.250 309.667 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 318.048 Td /F4 9.8 Tf [(Fig. 3: Diagnosis reported by registry participants.)] TJ ET Q BT 26.250 281.393 Td /F4 9.8 Tf [(Demographics)] TJ ET BT 26.250 261.988 Td /F1 9.8 Tf [(The mean age of participants with Duchenne is 15.0 years \(range 8mos-64y\) and for participants with Becker is 26.6 years )] TJ ET BT 26.250 250.083 Td /F1 9.8 Tf [(\(range 1.3y-69y\). See distribution data in Table 2.)] TJ ET q 450.000 0 0 153.750 26.250 86.452 cm /I15 Do Q BT 26.250 69.429 Td /F4 9.8 Tf [(Table 2. Summary of registry participants as of June 2011. Patients include those with Duchenne, Becker, and )] TJ ET BT 26.250 57.524 Td /F4 9.8 Tf [(Intermediate muscular dystrophy.)] TJ ET BT 26.250 38.119 Td /F1 9.8 Tf [(The majority of participants \(77%\) chose Caucasian as their racial background. Though Duchenne/Becker is presumed to be )] TJ ET Q q 15.000 23.833 577.500 753.167 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(DuchenneConnect is the largest US-based registry of Duchenne/Becker muscular dystrophy. As of June 2011, the registry )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(represents 1,595 patients with muscular dystrophy, 98 carrier or at-risk females and more than 300 professionals with an )] TJ ET BT 26.250 743.667 Td /F1 9.8 Tf [(interest in muscular dystrophy \(see Figure 2\). Of all patient participants, 69% \(n= 1213\) have submitted a health history survey. )] TJ ET BT 26.250 731.762 Td /F1 9.8 Tf [(Eighty six percent \(n=1366\) of patient participants report having genetic testing, of which 47% \(n= 647\) have submitted a copy )] TJ ET BT 26.250 719.857 Td /F1 9.8 Tf [(of their genetic test results. See Figure 3 for a description of participant characteristics.)] TJ ET 0.965 0.965 0.965 rg 26.250 509.821 555.000 200.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 709.976 m 581.250 709.976 l 581.250 709.226 l 26.250 709.226 l f 26.250 509.822 m 581.250 509.822 l 581.250 510.572 l 26.250 510.572 l f q 225.000 0 0 155.250 35.250 544.976 cm /I10 Do Q q 35.250 521.072 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 529.452 Td /F4 9.8 Tf [(Fig. 2: Annual total registrations by year Nov 2007 June 2011.)] TJ ET Q 0.965 0.965 0.965 rg 26.250 298.417 555.000 203.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 502.322 m 581.250 502.322 l 581.250 501.572 l 26.250 501.572 l f 26.250 298.417 m 581.250 298.417 l 581.250 299.167 l 26.250 299.167 l f q 225.000 0 0 159.000 35.250 333.572 cm /I11 Do Q q 35.250 309.667 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 318.048 Td /F4 9.8 Tf [(Fig. 3: Diagnosis reported by registry participants.)] TJ ET Q BT 26.250 281.393 Td /F4 9.8 Tf [(Demographics)] TJ ET BT 26.250 261.988 Td /F1 9.8 Tf [(The mean age of participants with Duchenne is 15.0 years \(range 8mos-64y\) and for participants with Becker is 26.6 years )] TJ ET BT 26.250 250.083 Td /F1 9.8 Tf [(\(range 1.3y-69y\). See distribution data in Table 2.)] TJ ET q 450.000 0 0 153.750 26.250 86.452 cm /I17 Do Q BT 26.250 69.429 Td /F4 9.8 Tf [(Table 2. Summary of registry participants as of June 2011. Patients include those with Duchenne, Becker, and )] TJ ET BT 26.250 57.524 Td /F4 9.8 Tf [(Intermediate muscular dystrophy.)] TJ ET BT 26.250 38.119 Td /F1 9.8 Tf [(The majority of participants \(77%\) chose Caucasian as their racial background. Though Duchenne/Becker is presumed to be )] TJ ET Q q 225.000 0 0 155.250 35.250 544.976 cm /I10 Do Q q 225.000 0 0 159.000 35.250 333.572 cm /I11 Do Q q 0.000 0.000 0.000 rg BT 291.710 19.825 Td /F1 11.0 Tf [(3)] TJ ET BT 25.000 19.825 Td /F1 11.0 Tf [(PLOS Currents Muscular Dystrophy)] TJ ET Q endstream endobj 80 0 obj << /Type /Annot /Subtype /Link /A 81 0 R /Border [0 0 0] /H /I /Rect [ 35.2500 544.9762 260.2500 700.2262 ] >> endobj 81 0 obj << /Type /Action /S /URI /URI (http://currents.plos.org/md/files/2012/04/DuchCon-Fig2.jpg) >> endobj 82 0 obj << /Type /XObject /Subtype /Image /Width 300 /Height 207 /ColorSpace /DeviceRGB /Filter /DCTDecode /BitsPerComponent 8 /Length 15504>> stream JFIF;CREATOR: gd-jpeg v1.0 (using IJG JPEG v62), quality = 90 C     C   ," }!1AQa"q2#BR$3br %&'()*456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz w!1AQaq"2B #3Rbr $4%&'()*56789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz ?R((Q@ (4PhEQE&p(hV PEPERwGjC@ IJ)(h%)@)-wRzRPhM;EQ@JJSIހ^MI|Zx_ iZnjRF4 %bN0UdbAmzɯ;I5Gxj;afKBM`T$ah;81!Ljg,oC r9<g- _ZƧ$nP[ w=xϠ-i-:]!_CKecv"e|K0f@~u ;VR-7i[UҮ-Mpqľ̊ 5&؟ ZM\A7ú>-ү-?\AW>vҌ7a@`I>05ezO^m-"o xe4V>K^vɲ,Gn4 ~,g-Bo x{E]/Rtϳz7\ aD;W`վ"~?xZ&dY? 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YU>zqׁ^O?+srrlb4t]ڱc_n~`0Fu34ƍ7x>޶(=\\\,$0MS5[bŊmڴi# bp(eee~: )Pɍ7p_ve/ ֬;T"P1:t`U!#F`LDGGϙ3g…G`}IIW_}>|A]9sߧ:w=vH||bC]w]kk}WZR2A0qD;jDn{HRs6zoeG8WQHJjԩS,Y`pM<_~֯wkk>9(y@b=( bWSC(p?W5]yH7dgn+?.6 F 0,k ْE<3~+¢t֟Ŝ.NR6?oCyyNqƍ.rƶonD4 SkkNgFfoOgrWзd.6-zw3֭]dEAjZzqQi'NطRJYXX1ڴiСÂ@Ձ>/:&_~M(,>[pk22zƙgϞM({-(ymnQ2x eƆ 념}i9RPPꞽ}cc عsgaN>mɗL"uZ]zƬ\)Eõ))%RJc׮R~MI Uǧhi$mim#PViaU0 A/zٳgcGrN&#v=SSs"~]cι 篺p$$$8{rrhi9Q.Xvvvvv.@Q!E0|wWâŋ].'BXӴC>|2=iEfgg?~<4 B~@'RSS8s̼喛1! QL"SJ!R]JJJ]N! `QJ_~pH)u۷c|˴*;|\Qդd]22kTgeF۶mPJJ.,,M:͑$vG\(>-^:g,NTH.Bp(AJteezzz\l֞=SRӲ}>-Ғ,Bw8ܶK0BVVko;;#3Qb_wG$)ۻwa23O̘9cc.r.)I|U5!B0]w`3eAw755ڿBB/ -[(eGG$$$TT+)3?zy _~ɓ)e;Z.c! `L p:tBȆPUi1 v!_Q!?Pp%@Q((iѤ^qoV[z#Ba q!9 ĸE(Ä@ "a$BA1QrUUBiʹ1&iaEB/KМG"BJX!I.30 ~B:QU!PB(""dB@cb= *..b)c9HBeQE( !L9WT ɘ@Qa9DB8P!B'wBƘ;XQq퐾@(Ę@$".%& ɹPTq.I!œ VT.8&$4!\HĴqI-UYU]]soB$ iGRB;DR E 2-*e\QI"DB. Q]jɓ!q .aWJTM ::K.镔BX1kZ4]B,TMB5q5)>!&- !aLAE!<"%\@dQaӲB /G߿GB B"DE1- N)#ƆiUU%P.㝻T!НiQLR!!P4ʄiZ(AÀA0fffx<" @D5"$1B )L!L)Gl޼ĉws! Q6 DE +4mt !#D BA$abB2 SQ*N.@յɱ:\WM @ ;C H! %fk# zj sǠ j3G8`DG$0(CQu>4uS{ㅣvG%@-H l3:t(ŭrq;HQ B0IE+C{pX2&sE)ud~ņEBvV茬z6]ιEkWn C6 F`2]f8q^"zABrfEg%_؃~"VnBtt.)i)/A)!z]$g$3AH A]!z=aPv45LTRN>#|MlNd.6l0/p !8(oWo+ˍ%B !gH  rm.ϥuHuaiaHF^pNmv[Caw))DݾOrg0<ݶ;> endobj 101 0 obj << /Length 13309 >> stream 0.271 0.267 0.267 rg q 15.000 29.476 577.500 747.524 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(pan-ethnic, participation rates among individuals of African American background are lower than expected, suggesting )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(additional outreach and educational efforts are warranted to further engage this community.)] TJ ET BT 26.250 736.167 Td /F1 9.8 Tf [(DuchenneConnect is targeted toward participants in the US. However, the registry welcomes individuals from any country to )] TJ ET BT 26.250 724.262 Td /F1 9.8 Tf [(participate and has previously offered the survey in Spanish. \(This capability will return in the near future, and the survey will )] TJ ET BT 26.250 712.357 Td /F1 9.8 Tf [(also be offered in additional languages.\) To date, participants from 78 countries are represented in the registry \(see Figure 4\). )] TJ ET BT 26.250 700.452 Td /F1 9.8 Tf [(Languages spoken by participants include English, Spanish, German, French, Chinese, Italian, and Vietnamese.)] TJ ET 0.965 0.965 0.965 rg 26.250 463.512 555.000 227.059 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 690.571 m 581.250 690.571 l 581.250 689.821 l 26.250 689.821 l f 26.250 463.512 m 581.250 463.512 l 581.250 464.262 l 26.250 464.262 l f q 225.000 0 0 170.250 35.250 510.571 cm /I18 Do Q q 35.250 474.762 537.000 29.809 re W n 0.271 0.267 0.267 rg BT 35.250 495.048 Td /F4 9.8 Tf [(Fig. 4: DuchenneConnect continues to draw participants around the globe. The colored circles reflect areas with )] TJ ET BT 35.250 483.143 Td /F4 9.8 Tf [(more/fewer participants.)] TJ ET Q BT 26.250 446.488 Td /F4 9.8 Tf [(Age at Diagnosis)] TJ ET BT 26.250 427.083 Td /F1 9.8 Tf [(Frequently, families suspect that something is wrong regarding the health of their child before a diagnosis is established. Among )] TJ ET BT 26.250 415.179 Td /F1 9.8 Tf [(the total group of affected participants, the mean age of diagnosis was reported at 4.8 years. The mean age at diagnosis for )] TJ ET BT 26.250 403.274 Td /F1 9.8 Tf [(participants with Duchenne was 4.2 years, and for participants with Becker the mean age at diagnosis was 10.8 years. For )] TJ ET BT 26.250 391.369 Td /F1 9.8 Tf [(Duchenne the symptoms were first recognized on average 1.3 years prior to diagnosis, and for Becker 3.2 years prior to )] TJ ET BT 26.250 379.464 Td /F1 9.8 Tf [(diagnosis. Figure 5 shows age at symptom onset vs. age at diagnosis for the Duchenne/Becker group.)] TJ ET 0.965 0.965 0.965 rg 26.250 190.429 555.000 179.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 369.583 m 581.250 369.583 l 581.250 368.833 l 26.250 368.833 l f 26.250 190.429 m 581.250 190.429 l 581.250 191.179 l 26.250 191.179 l f q 225.000 0 0 134.250 35.250 225.583 cm /I19 Do Q q 35.250 201.679 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 210.060 Td /F4 9.8 Tf [(Fig. 5: Reported ages of participants at diagnosis \(n=1562\) and onset of symptoms \(n=1233\).)] TJ ET Q BT 26.250 173.405 Td /F4 9.8 Tf [(Family History)] TJ ET BT 26.250 154.000 Td /F1 9.8 Tf [(Dystrophinopathies are X-linked genetic conditions, and in about 70% of cases the mother is expected to be a carrier and about )] TJ ET BT 26.250 142.095 Td /F1 9.8 Tf [(30% are expected to result from new mutations. Of 1,680 respondents, 416 report that other family members have a similar )] TJ ET BT 26.250 130.191 Td /F1 9.8 Tf [(muscle disease. Of 351 who provided additional detail, 38% identified a brother\(s\), 15% identified an uncle\(s\), 16% report a )] TJ ET BT 26.250 118.286 Td /F1 9.8 Tf [(cousin\(s\), and 12% identified a mother. \(Because of the lower prevalence of manifesting carriers and the fact that carriers are )] TJ ET BT 26.250 106.381 Td /F1 9.8 Tf [(permitted to enter their data in the registry, the majority of identified mothers are expected to represent known carriers vs. )] TJ ET BT 26.250 94.476 Td /F1 9.8 Tf [(manifesting females.\))] TJ ET BT 26.250 75.072 Td /F4 9.8 Tf [(Ambulation)] TJ ET BT 26.250 55.667 Td /F1 9.8 Tf [(To date, loss of ambulation is an inevitable milestone in the progression of DBMD, though the timing of loss of walking varies )] TJ ET BT 26.250 43.762 Td /F1 9.8 Tf [(considerably between and within Duchenne and Becker muscular dystrophies. Figure 6 shows the status of walking among the )] TJ ET Q q 15.000 29.476 577.500 747.524 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(pan-ethnic, participation rates among individuals of African American background are lower than expected, suggesting )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(additional outreach and educational efforts are warranted to further engage this community.)] TJ ET BT 26.250 736.167 Td /F1 9.8 Tf [(DuchenneConnect is targeted toward participants in the US. However, the registry welcomes individuals from any country to )] TJ ET BT 26.250 724.262 Td /F1 9.8 Tf [(participate and has previously offered the survey in Spanish. \(This capability will return in the near future, and the survey will )] TJ ET BT 26.250 712.357 Td /F1 9.8 Tf [(also be offered in additional languages.\) To date, participants from 78 countries are represented in the registry \(see Figure 4\). )] TJ ET BT 26.250 700.452 Td /F1 9.8 Tf [(Languages spoken by participants include English, Spanish, German, French, Chinese, Italian, and Vietnamese.)] TJ ET 0.965 0.965 0.965 rg 26.250 463.512 555.000 227.059 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 690.571 m 581.250 690.571 l 581.250 689.821 l 26.250 689.821 l f 26.250 463.512 m 581.250 463.512 l 581.250 464.262 l 26.250 464.262 l f q 225.000 0 0 170.250 35.250 510.571 cm /I18 Do Q q 35.250 474.762 537.000 29.809 re W n 0.271 0.267 0.267 rg BT 35.250 495.048 Td /F4 9.8 Tf [(Fig. 4: DuchenneConnect continues to draw participants around the globe. The colored circles reflect areas with )] TJ ET BT 35.250 483.143 Td /F4 9.8 Tf [(more/fewer participants.)] TJ ET Q BT 26.250 446.488 Td /F4 9.8 Tf [(Age at Diagnosis)] TJ ET BT 26.250 427.083 Td /F1 9.8 Tf [(Frequently, families suspect that something is wrong regarding the health of their child before a diagnosis is established. Among )] TJ ET BT 26.250 415.179 Td /F1 9.8 Tf [(the total group of affected participants, the mean age of diagnosis was reported at 4.8 years. The mean age at diagnosis for )] TJ ET BT 26.250 403.274 Td /F1 9.8 Tf [(participants with Duchenne was 4.2 years, and for participants with Becker the mean age at diagnosis was 10.8 years. For )] TJ ET BT 26.250 391.369 Td /F1 9.8 Tf [(Duchenne the symptoms were first recognized on average 1.3 years prior to diagnosis, and for Becker 3.2 years prior to )] TJ ET BT 26.250 379.464 Td /F1 9.8 Tf [(diagnosis. Figure 5 shows age at symptom onset vs. age at diagnosis for the Duchenne/Becker group.)] TJ ET 0.965 0.965 0.965 rg 26.250 190.429 555.000 179.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 369.583 m 581.250 369.583 l 581.250 368.833 l 26.250 368.833 l f 26.250 190.429 m 581.250 190.429 l 581.250 191.179 l 26.250 191.179 l f q 225.000 0 0 134.250 35.250 225.583 cm /I19 Do Q q 35.250 201.679 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 210.060 Td /F4 9.8 Tf [(Fig. 5: Reported ages of participants at diagnosis \(n=1562\) and onset of symptoms \(n=1233\).)] TJ ET Q BT 26.250 173.405 Td /F4 9.8 Tf [(Family History)] TJ ET BT 26.250 154.000 Td /F1 9.8 Tf [(Dystrophinopathies are X-linked genetic conditions, and in about 70% of cases the mother is expected to be a carrier and about )] TJ ET BT 26.250 142.095 Td /F1 9.8 Tf [(30% are expected to result from new mutations. Of 1,680 respondents, 416 report that other family members have a similar )] TJ ET BT 26.250 130.191 Td /F1 9.8 Tf [(muscle disease. Of 351 who provided additional detail, 38% identified a brother\(s\), 15% identified an uncle\(s\), 16% report a )] TJ ET BT 26.250 118.286 Td /F1 9.8 Tf [(cousin\(s\), and 12% identified a mother. \(Because of the lower prevalence of manifesting carriers and the fact that carriers are )] TJ ET BT 26.250 106.381 Td /F1 9.8 Tf [(permitted to enter their data in the registry, the majority of identified mothers are expected to represent known carriers vs. )] TJ ET BT 26.250 94.476 Td /F1 9.8 Tf [(manifesting females.\))] TJ ET BT 26.250 75.072 Td /F4 9.8 Tf [(Ambulation)] TJ ET BT 26.250 55.667 Td /F1 9.8 Tf [(To date, loss of ambulation is an inevitable milestone in the progression of DBMD, though the timing of loss of walking varies )] TJ ET BT 26.250 43.762 Td /F1 9.8 Tf [(considerably between and within Duchenne and Becker muscular dystrophies. Figure 6 shows the status of walking among the )] TJ ET Q q 15.000 29.476 577.500 747.524 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(pan-ethnic, participation rates among individuals of African American background are lower than expected, suggesting )] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(additional outreach and educational efforts are warranted to further engage this community.)] TJ ET BT 26.250 736.167 Td /F1 9.8 Tf [(DuchenneConnect is targeted toward participants in the US. However, the registry welcomes individuals from any country to )] TJ ET BT 26.250 724.262 Td /F1 9.8 Tf [(participate and has previously offered the survey in Spanish. \(This capability will return in the near future, and the survey will )] TJ ET BT 26.250 712.357 Td /F1 9.8 Tf [(also be offered in additional languages.\) To date, participants from 78 countries are represented in the registry \(see Figure 4\). )] TJ ET BT 26.250 700.452 Td /F1 9.8 Tf [(Languages spoken by participants include English, Spanish, German, French, Chinese, Italian, and Vietnamese.)] TJ ET 0.965 0.965 0.965 rg 26.250 463.512 555.000 227.059 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 690.571 m 581.250 690.571 l 581.250 689.821 l 26.250 689.821 l f 26.250 463.512 m 581.250 463.512 l 581.250 464.262 l 26.250 464.262 l f q 225.000 0 0 170.250 35.250 510.571 cm /I18 Do Q q 35.250 474.762 537.000 29.809 re W n 0.271 0.267 0.267 rg BT 35.250 495.048 Td /F4 9.8 Tf [(Fig. 4: DuchenneConnect continues to draw participants around the globe. The colored circles reflect areas with )] TJ ET BT 35.250 483.143 Td /F4 9.8 Tf [(more/fewer participants.)] TJ ET Q BT 26.250 446.488 Td /F4 9.8 Tf [(Age at Diagnosis)] TJ ET BT 26.250 427.083 Td /F1 9.8 Tf [(Frequently, families suspect that something is wrong regarding the health of their child before a diagnosis is established. Among )] TJ ET BT 26.250 415.179 Td /F1 9.8 Tf [(the total group of affected participants, the mean age of diagnosis was reported at 4.8 years. The mean age at diagnosis for )] TJ ET BT 26.250 403.274 Td /F1 9.8 Tf [(participants with Duchenne was 4.2 years, and for participants with Becker the mean age at diagnosis was 10.8 years. For )] TJ ET BT 26.250 391.369 Td /F1 9.8 Tf [(Duchenne the symptoms were first recognized on average 1.3 years prior to diagnosis, and for Becker 3.2 years prior to )] TJ ET BT 26.250 379.464 Td /F1 9.8 Tf [(diagnosis. Figure 5 shows age at symptom onset vs. age at diagnosis for the Duchenne/Becker group.)] TJ ET 0.965 0.965 0.965 rg 26.250 190.429 555.000 179.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 369.583 m 581.250 369.583 l 581.250 368.833 l 26.250 368.833 l f 26.250 190.429 m 581.250 190.429 l 581.250 191.179 l 26.250 191.179 l f q 225.000 0 0 134.250 35.250 225.583 cm /I19 Do Q q 35.250 201.679 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 210.060 Td /F4 9.8 Tf [(Fig. 5: Reported ages of participants at diagnosis \(n=1562\) and onset of symptoms \(n=1233\).)] TJ ET Q BT 26.250 173.405 Td /F4 9.8 Tf [(Family History)] TJ ET BT 26.250 154.000 Td /F1 9.8 Tf [(Dystrophinopathies are X-linked genetic conditions, and in about 70% of cases the mother is expected to be a carrier and about )] TJ ET BT 26.250 142.095 Td /F1 9.8 Tf [(30% are expected to result from new mutations. Of 1,680 respondents, 416 report that other family members have a similar )] TJ ET BT 26.250 130.191 Td /F1 9.8 Tf [(muscle disease. Of 351 who provided additional detail, 38% identified a brother\(s\), 15% identified an uncle\(s\), 16% report a )] TJ ET BT 26.250 118.286 Td /F1 9.8 Tf [(cousin\(s\), and 12% identified a mother. \(Because of the lower prevalence of manifesting carriers and the fact that carriers are )] TJ ET BT 26.250 106.381 Td /F1 9.8 Tf [(permitted to enter their data in the registry, the majority of identified mothers are expected to represent known carriers vs. )] TJ ET BT 26.250 94.476 Td /F1 9.8 Tf [(manifesting females.\))] TJ ET BT 26.250 75.072 Td /F4 9.8 Tf [(Ambulation)] TJ ET BT 26.250 55.667 Td /F1 9.8 Tf [(To date, loss of ambulation is an inevitable milestone in the progression of DBMD, though the timing of loss of walking varies )] TJ ET BT 26.250 43.762 Td /F1 9.8 Tf [(considerably between and within Duchenne and Becker muscular dystrophies. Figure 6 shows the status of walking among the )] TJ ET Q q 225.000 0 0 170.250 35.250 510.571 cm /I18 Do Q q 225.000 0 0 134.250 35.250 225.583 cm /I19 Do Q q 0.000 0.000 0.000 rg BT 291.710 19.825 Td /F1 11.0 Tf [(4)] TJ ET BT 25.000 19.825 Td /F1 11.0 Tf [(PLOS Currents Muscular Dystrophy)] TJ ET Q endstream endobj 102 0 obj << /Type /Annot /Subtype /Link /A 103 0 R /Border [0 0 0] /H /I /Rect [ 35.2500 510.5715 260.2500 680.8215 ] >> endobj 103 0 obj << /Type /Action /S /URI /URI (http://currents.plos.org/md/files/2012/04/DuchCon-Fig4.jpg) >> endobj 104 0 obj << /Type /XObject /Subtype /Image /Width 300 /Height 227 /ColorSpace /DeviceRGB /Filter /DCTDecode /BitsPerComponent 8 /Length 20033>> stream JFIF;CREATOR: gd-jpeg v1.0 (using IJG JPEG v62), quality = 90 C     C   ," }!1AQa"q2#BR$3br %&'()*456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz w!1AQaq"2B #3Rbr $4%&'()*56789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz ?C}-N3޹$g$WW!1߷sZk6:RO,/1X/"$ل\}k*m D&N^-fT%`s`ۯ&O`WQ4Cs▟V_53%8"1\µ^Y>j7?tEԾ~N0=׵;$SX'Dy6?*)9<|\Ф׬H՞Cp} xu~4Z_Q&gw4i^ Dc7Ƴl56- R)RxϦ~'~ߧ5Pg׸WVF*+3P2?Lu3}jį'gQny n- M>.Q%.0_J֢𿈯BΑ ĩ1\.v,<[J}̹j;8Ox-ޤYt&!Th4y+׃qW_5]B[,BOF$ ? gⲄ8r0 ڕ݊} cۉ9RPJ<,kM:~.xcTٸ_ifIH%,˸9t<7i2'!0 * Iu秶{S5tC%xOX| ٓM'Xqч g8J*֗5R:Ov=_]a%{K-$KaϞANŞG:g CخUP"4A2=j]GY6~Դ]SKcө)|ӆm >Ap/6 #MtMI9ۮmu%tkú5>sa q|YY@ =;U7K$b8cz׏rUᲶv2,)$Xw֚\ 9$vϥyu.'Q[o ;vǜdw1"=rۮ+7Nx\5"E>]M&c I6'sWjwԖ41QG\ԵiSXmI)Qz#^J73+_pWiM&F(Qq[”3sKCZ޿3ܯر}+c֍oqL{u\q6EG~LYp?/GJ}&/&~R"gwUʚS;gF`3!ҡ觿Ҽ-h.;eVPs+5?ZXyZ2`n\{y5ϓɏq۞Vu奓,׋aNm88<_BR4ϰ>yƾm'/7?P'_nXV2H0'OjIC!18x{& Aq'UһZEm79$oɯj F3\4U@~oƸ_&m\x(n,X++sr d,:V7;74wu¼W@dJR2v⨪eNۙ׍XQ|7?yeyKjZiup8|.? ?ޫ5ĐCU-uPG巎.4\ %%lI'+ ,*\R+R57vޥ223IN.xN}jkn]j'OO}RTY m'U߳Ɠ*κx-&tlu*SkwKl.--S:kxբe p}+IQg3wR 'SNrЮlmTڠqwkkK' WBgWѢ.G$֔G$`Ѹ޹*!ZC)]OI ZncJզ-Y6 ֲ,%tّ7QO"'Zy2֛O%8 "|ıo?kfĶYa r@k4 b]"K^ ]Dq*qF8|{{j[t[%E\ӊܴ>iiL"@#NvZMQa&7N?*fEoSU\a '#o#aI|v7=Ȼ+®ϜJs If>յ rw1n?d_ NYDl 0y={f1ޫq7CUvqpwg}mrq=IOLG^ue.QΫmͱqcߎGxbN7mt^zrA]g&ۭ㭕3,[[WG6ѢEk#MC 1WMxkÚN4wlo{/OX:,K:67r?S_-xX(r]Rw#$xL,u?(&kwa{.A#"o3Ĭ &CD=ȯNwM\jT%y;Z"^TZt+d`1v?x߀s#FG;X#]m-/2V\vOkQU{FF5~'\5Dl!{#Q&D.:~5 ys@C=Aϥ{چYͰ;ZHq~([ B;O\++Z\dȏ9]$ܽ@aIω;n(o% r2Gz&EJZ6-pG5]n駵 85Ez9T^CnEl|wU;qߓ\R* I݅h$1@ޖ5C$fFEBIw9G&UһlcB<2۸'NN oideH[qԐsp)E)k] yE V/s\fQ┌ z|B@@~֑@m'gфwrb)CwΒsNëV]F`YR%@LOIU# X**quT%gJbK;GILB GX4n(F3?$mof]8ܞ)y)F-"!$$;XxƵ-& 5|F4xnH 8 wiI3Yq'z5 ĨT.|9Lvet7hhuV Mf.pѩ)t_ikfFV+Ga@ce\FfQ:y哓p=d65syZSE L*qL4r G%WEnPd1u!2,O<{S[G&&R78kֵh3 FƸ;mT]pF:qZ[fF }jڔgY{OV' GcU*y3"˰mP{JjQEfQEt^XZjvfU4s&|rMxrFE-"ї>Q;;ka\Zv$GǮp1jqH֭]6S,[9I$P[9a=S]6 IxR.JAvmHȯcP:}k%4mTV:>p0:v)=s?]ɩ$ɼ$h?|Wpk_l^J(ҍUsG'u|3:^z픍 "2rZ0)*r#:E]'|[#YnG',@'?k'r=W#w^>zIK}\Bah681q.ボJ<a5]):TcL {ԾxFumZ[BV=Q}灜oMN]K`vWB f? 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Msuwc|)Zo,JJq _| sZ?j4vP#MxUb%plB"8b{+e'W,N$)OojF[[_iմ3ZFc#=_)y!~!xŗONJ'K\.-p|㍤|oJ:嶧;Pd>"@X xZնom[Ek;W+ 8d;& lXsӜ? ^JIÒW )=Cp^U0Nk˴O7Kq=// m*H#>\F@^—֟m:5X DQYd"T@<ý7]sD}G 3kqǪZKiafVۃ AWGEpjzWq"~v> endobj 109 0 obj << /Type /Action /S /URI /URI (http://currents.plos.org/md/files/2012/04/DuchCon-Fig4.jpg) >> endobj 110 0 obj << /Type /Annot /Subtype /Link /A 111 0 R /Border [0 0 0] /H /I /Rect [ 35.2500 225.5835 260.2500 359.8335 ] >> endobj 111 0 obj << /Type /Action /S /URI /URI (http://currents.plos.org/md/files/2012/04/DuchCon-Fig5.jpg) >> endobj 112 0 obj << /Type /Annot /Subtype /Link /A 113 0 R /Border [0 0 0] /H /I /Rect [ 35.2500 510.5715 260.2500 680.8215 ] >> endobj 113 0 obj << /Type /Action /S /URI /URI (http://currents.plos.org/md/files/2012/04/DuchCon-Fig4.jpg) >> endobj 114 0 obj << /Type /Annot /Subtype /Link /A 115 0 R /Border [0 0 0] /H /I /Rect [ 35.2500 225.5835 260.2500 359.8335 ] >> endobj 115 0 obj << /Type /Action /S /URI /URI (http://currents.plos.org/md/files/2012/04/DuchCon-Fig5.jpg) >> endobj 116 0 obj << /Type /Page /Parent 3 0 R /Annots [ 118 0 R 121 0 R 124 0 R 126 0 R 129 0 R 131 0 R 133 0 R 135 0 R 137 0 R 139 0 R 141 0 R 143 0 R ] /Contents 117 0 R >> endobj 117 0 obj << /Length 21587 >> stream 0.271 0.267 0.267 rg q 15.000 -107.309 577.500 884.309 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(patient participants. Of 1,575 participants who responded to this question, 1,060 \(67%\) are ambulatory and 508 \(33%\) are non-)] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(ambulatory. Of the non-ambulatory group, 1.4% have Becker, 30% have Duchenne, and 1.0% have an intermediary phenotype.)] TJ ET 0.965 0.965 0.965 rg 26.250 565.786 555.000 179.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 745.690 m 581.250 745.690 l 581.250 744.940 l 26.250 744.940 l f 26.250 565.786 m 581.250 565.786 l 581.250 566.536 l 26.250 566.536 l f q 225.000 0 0 135.000 35.250 600.940 cm /I20 Do Q q 35.250 577.036 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 585.417 Td /F4 9.8 Tf [(Fig. 6: Ambulation among patient participants in the Registry.)] TJ ET Q BT 26.250 548.762 Td /F1 9.8 Tf [(The mean age of full-time wheelchair use for those with Duchenne is 10.5 years, and for those with Becker is 21.5 years \(see )] TJ ET BT 26.250 536.857 Td /F1 9.8 Tf [(Figure 7\).)] TJ ET 0.965 0.965 0.965 rg 26.250 351.571 555.000 175.405 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 526.976 m 581.250 526.976 l 581.250 526.226 l 26.250 526.226 l f 26.250 351.571 m 581.250 351.571 l 581.250 352.321 l 26.250 352.321 l f q 225.000 0 0 130.500 35.250 386.726 cm /I21 Do Q q 35.250 362.821 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 371.202 Td /F4 9.8 Tf [(Fig. 7: Reported age of full-time wheelchair use.)] TJ ET Q BT 26.250 334.548 Td /F4 9.8 Tf [(Corticosteroid Use)] TJ ET BT 26.250 322.643 Td /F1 9.8 Tf [(Use of corticosteroids remains of strong interest to the community, especially following the adoption of the 2010 care )] TJ ET BT 26.250 310.738 Td /F1 9.8 Tf [(recommendations for Duchenne muscular dystrophy that confirm previously published basic guidelines as to their use \()] TJ ET 0.267 0.267 0.267 rg BT 538.866 310.738 Td /F1 9.8 Tf [([1])] TJ ET 0.271 0.267 0.267 rg BT 549.708 310.738 Td /F1 9.8 Tf [(\). Of )] TJ ET BT 26.250 298.833 Td /F1 9.8 Tf [(DuchenneConnect participants, 22% currently use prednisone and 29% currently use deflazacort. Thirty-six percent of )] TJ ET BT 26.250 286.929 Td /F1 9.8 Tf [(respondents have never used corticosteroids. Ten percent of respondents have used corticosteroids in the past but no longer )] TJ ET BT 26.250 275.024 Td /F1 9.8 Tf [(use them. Two percent were unsure about their corticosteroid use.)] TJ ET BT 26.250 255.619 Td /F1 9.8 Tf [(Among 1,564 patient participants:)] TJ ET 0.271 0.267 0.267 RG 40.337 239.182 m 40.337 239.629 40.154 240.073 39.838 240.389 c 39.522 240.704 39.078 240.888 38.631 240.888 c 38.185 240.888 37.741 240.704 37.425 240.389 c 37.109 240.073 36.925 239.629 36.925 239.182 c 36.925 238.735 37.109 238.291 37.425 237.975 c 37.741 237.660 38.185 237.476 38.631 237.476 c 39.078 237.476 39.522 237.660 39.838 237.975 c 40.154 238.291 40.337 238.735 40.337 239.182 c f BT 45.750 236.214 Td /F1 9.8 Tf [(28% \(444\) have Duchenne and use deflazacort)] TJ ET 40.337 223.527 m 40.337 223.974 40.154 224.418 39.838 224.734 c 39.522 225.050 39.078 225.233 38.631 225.233 c 38.185 225.233 37.741 225.050 37.425 224.734 c 37.109 224.418 36.925 223.974 36.925 223.527 c 36.925 223.081 37.109 222.637 37.425 222.321 c 37.741 222.005 38.185 221.821 38.631 221.821 c 39.078 221.821 39.522 222.005 39.838 222.321 c 40.154 222.637 40.337 223.081 40.337 223.527 c f BT 45.750 220.560 Td /F1 9.8 Tf [(21% \(322\) have Duchenne and use prednisone)] TJ ET 40.337 207.872 m 40.337 208.319 40.154 208.763 39.838 209.079 c 39.522 209.395 39.078 209.579 38.631 209.579 c 38.185 209.579 37.741 209.395 37.425 209.079 c 37.109 208.763 36.925 208.319 36.925 207.872 c 36.925 207.426 37.109 206.982 37.425 206.666 c 37.741 206.350 38.185 206.166 38.631 206.166 c 39.078 206.166 39.522 206.350 39.838 206.666 c 40.154 206.982 40.337 207.426 40.337 207.872 c f BT 45.750 204.905 Td /F1 9.8 Tf [(1% \(12\) have Becker and use either deflazacort or prednisone)] TJ ET 40.337 192.218 m 40.337 192.664 40.154 193.108 39.838 193.424 c 39.522 193.740 39.078 193.924 38.631 193.924 c 38.185 193.924 37.741 193.740 37.425 193.424 c 37.109 193.108 36.925 192.664 36.925 192.218 c 36.925 191.771 37.109 191.327 37.425 191.011 c 37.741 190.695 38.185 190.511 38.631 190.511 c 39.078 190.511 39.522 190.695 39.838 191.011 c 40.154 191.327 40.337 191.771 40.337 192.218 c f BT 45.750 189.250 Td /F1 9.8 Tf [(1% \(23\) have an intermediate presentation and use either deflazacort or prednisone)] TJ ET BT 26.250 166.095 Td /F1 9.8 Tf [(Of 1,564 participants who provided data about their ambulatory status and their corticosteroid use:)] TJ ET 40.337 149.658 m 40.337 150.105 40.154 150.549 39.838 150.865 c 39.522 151.181 39.078 151.364 38.631 151.364 c 38.185 151.364 37.741 151.181 37.425 150.865 c 37.109 150.549 36.925 150.105 36.925 149.658 c 36.925 149.212 37.109 148.768 37.425 148.452 c 37.741 148.136 38.185 147.952 38.631 147.952 c 39.078 147.952 39.522 148.136 39.838 148.452 c 40.154 148.768 40.337 149.212 40.337 149.658 c f BT 45.750 146.691 Td /F1 9.8 Tf [(40% \(624\) are ambulatory and use steroids)] TJ ET 40.337 134.003 m 40.337 134.450 40.154 134.894 39.838 135.210 c 39.522 135.526 39.078 135.710 38.631 135.710 c 38.185 135.710 37.741 135.526 37.425 135.210 c 37.109 134.894 36.925 134.450 36.925 134.003 c 36.925 133.557 37.109 133.113 37.425 132.797 c 37.741 132.481 38.185 132.297 38.631 132.297 c 39.078 132.297 39.522 132.481 39.838 132.797 c 40.154 133.113 40.337 133.557 40.337 134.003 c f BT 45.750 131.036 Td /F1 9.8 Tf [(26% \(411\) are ambulatory but not using steroids)] TJ ET 40.337 118.349 m 40.337 118.795 40.154 119.239 39.838 119.555 c 39.522 119.871 39.078 120.055 38.631 120.055 c 38.185 120.055 37.741 119.871 37.425 119.555 c 37.109 119.239 36.925 118.795 36.925 118.349 c 36.925 117.902 37.109 117.458 37.425 117.142 c 37.741 116.826 38.185 116.642 38.631 116.642 c 39.078 116.642 39.522 116.826 39.838 117.142 c 40.154 117.458 40.337 117.902 40.337 118.349 c f BT 45.750 115.381 Td /F1 9.8 Tf [(11% \(176\) are not ambulatory and using steroids)] TJ ET 40.337 102.694 m 40.337 103.141 40.154 103.585 39.838 103.901 c 39.522 104.216 39.078 104.400 38.631 104.400 c 38.185 104.400 37.741 104.216 37.425 103.901 c 37.109 103.585 36.925 103.141 36.925 102.694 c 36.925 102.247 37.109 101.803 37.425 101.487 c 37.741 101.172 38.185 100.988 38.631 100.988 c 39.078 100.988 39.522 101.172 39.838 101.487 c 40.154 101.803 40.337 102.247 40.337 102.694 c f BT 45.750 99.726 Td /F1 9.8 Tf [(20% \(319\) are not ambulatory and not using steroids)] TJ ET BT 26.250 76.572 Td /F1 9.8 Tf [(Figures 8 and 9 represent corticosteroid use among ambulatory and non-ambulatory patients.)] TJ ET 0.965 0.965 0.965 rg 26.250 -107.309 555.000 174.000 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 66.691 m 581.250 66.691 l 581.250 65.941 l 26.250 65.941 l f q 225.000 0 0 158.250 35.250 -101.309 cm /I22 Do Q q 35.250 -107.309 537.000 0.000 re W n Q Q q 15.000 -107.309 577.500 884.309 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(patient participants. Of 1,575 participants who responded to this question, 1,060 \(67%\) are ambulatory and 508 \(33%\) are non-)] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(ambulatory. Of the non-ambulatory group, 1.4% have Becker, 30% have Duchenne, and 1.0% have an intermediary phenotype.)] TJ ET 0.965 0.965 0.965 rg 26.250 565.786 555.000 179.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 745.690 m 581.250 745.690 l 581.250 744.940 l 26.250 744.940 l f 26.250 565.786 m 581.250 565.786 l 581.250 566.536 l 26.250 566.536 l f q 225.000 0 0 135.000 35.250 600.940 cm /I20 Do Q q 35.250 577.036 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 585.417 Td /F4 9.8 Tf [(Fig. 6: Ambulation among patient participants in the Registry.)] TJ ET Q BT 26.250 548.762 Td /F1 9.8 Tf [(The mean age of full-time wheelchair use for those with Duchenne is 10.5 years, and for those with Becker is 21.5 years \(see )] TJ ET BT 26.250 536.857 Td /F1 9.8 Tf [(Figure 7\).)] TJ ET 0.965 0.965 0.965 rg 26.250 351.571 555.000 175.405 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 526.976 m 581.250 526.976 l 581.250 526.226 l 26.250 526.226 l f 26.250 351.571 m 581.250 351.571 l 581.250 352.321 l 26.250 352.321 l f q 225.000 0 0 130.500 35.250 386.726 cm /I21 Do Q q 35.250 362.821 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 371.202 Td /F4 9.8 Tf [(Fig. 7: Reported age of full-time wheelchair use.)] TJ ET Q BT 26.250 334.548 Td /F4 9.8 Tf [(Corticosteroid Use)] TJ ET BT 26.250 322.643 Td /F1 9.8 Tf [(Use of corticosteroids remains of strong interest to the community, especially following the adoption of the 2010 care )] TJ ET BT 26.250 310.738 Td /F1 9.8 Tf [(recommendations for Duchenne muscular dystrophy that confirm previously published basic guidelines as to their use \()] TJ ET 0.267 0.267 0.267 rg BT 538.866 310.738 Td /F1 9.8 Tf [([1])] TJ ET 0.271 0.267 0.267 rg BT 549.708 310.738 Td /F1 9.8 Tf [(\). Of )] TJ ET BT 26.250 298.833 Td /F1 9.8 Tf [(DuchenneConnect participants, 22% currently use prednisone and 29% currently use deflazacort. Thirty-six percent of )] TJ ET BT 26.250 286.929 Td /F1 9.8 Tf [(respondents have never used corticosteroids. Ten percent of respondents have used corticosteroids in the past but no longer )] TJ ET BT 26.250 275.024 Td /F1 9.8 Tf [(use them. Two percent were unsure about their corticosteroid use.)] TJ ET BT 26.250 255.619 Td /F1 9.8 Tf [(Among 1,564 patient participants:)] TJ ET 0.271 0.267 0.267 RG 40.337 239.182 m 40.337 239.629 40.154 240.073 39.838 240.389 c 39.522 240.704 39.078 240.888 38.631 240.888 c 38.185 240.888 37.741 240.704 37.425 240.389 c 37.109 240.073 36.925 239.629 36.925 239.182 c 36.925 238.735 37.109 238.291 37.425 237.975 c 37.741 237.660 38.185 237.476 38.631 237.476 c 39.078 237.476 39.522 237.660 39.838 237.975 c 40.154 238.291 40.337 238.735 40.337 239.182 c f BT 45.750 236.214 Td /F1 9.8 Tf [(28% \(444\) have Duchenne and use deflazacort)] TJ ET 40.337 223.527 m 40.337 223.974 40.154 224.418 39.838 224.734 c 39.522 225.050 39.078 225.233 38.631 225.233 c 38.185 225.233 37.741 225.050 37.425 224.734 c 37.109 224.418 36.925 223.974 36.925 223.527 c 36.925 223.081 37.109 222.637 37.425 222.321 c 37.741 222.005 38.185 221.821 38.631 221.821 c 39.078 221.821 39.522 222.005 39.838 222.321 c 40.154 222.637 40.337 223.081 40.337 223.527 c f BT 45.750 220.560 Td /F1 9.8 Tf [(21% \(322\) have Duchenne and use prednisone)] TJ ET 40.337 207.872 m 40.337 208.319 40.154 208.763 39.838 209.079 c 39.522 209.395 39.078 209.579 38.631 209.579 c 38.185 209.579 37.741 209.395 37.425 209.079 c 37.109 208.763 36.925 208.319 36.925 207.872 c 36.925 207.426 37.109 206.982 37.425 206.666 c 37.741 206.350 38.185 206.166 38.631 206.166 c 39.078 206.166 39.522 206.350 39.838 206.666 c 40.154 206.982 40.337 207.426 40.337 207.872 c f BT 45.750 204.905 Td /F1 9.8 Tf [(1% \(12\) have Becker and use either deflazacort or prednisone)] TJ ET 40.337 192.218 m 40.337 192.664 40.154 193.108 39.838 193.424 c 39.522 193.740 39.078 193.924 38.631 193.924 c 38.185 193.924 37.741 193.740 37.425 193.424 c 37.109 193.108 36.925 192.664 36.925 192.218 c 36.925 191.771 37.109 191.327 37.425 191.011 c 37.741 190.695 38.185 190.511 38.631 190.511 c 39.078 190.511 39.522 190.695 39.838 191.011 c 40.154 191.327 40.337 191.771 40.337 192.218 c f BT 45.750 189.250 Td /F1 9.8 Tf [(1% \(23\) have an intermediate presentation and use either deflazacort or prednisone)] TJ ET BT 26.250 166.095 Td /F1 9.8 Tf [(Of 1,564 participants who provided data about their ambulatory status and their corticosteroid use:)] TJ ET 40.337 149.658 m 40.337 150.105 40.154 150.549 39.838 150.865 c 39.522 151.181 39.078 151.364 38.631 151.364 c 38.185 151.364 37.741 151.181 37.425 150.865 c 37.109 150.549 36.925 150.105 36.925 149.658 c 36.925 149.212 37.109 148.768 37.425 148.452 c 37.741 148.136 38.185 147.952 38.631 147.952 c 39.078 147.952 39.522 148.136 39.838 148.452 c 40.154 148.768 40.337 149.212 40.337 149.658 c f BT 45.750 146.691 Td /F1 9.8 Tf [(40% \(624\) are ambulatory and use steroids)] TJ ET 40.337 134.003 m 40.337 134.450 40.154 134.894 39.838 135.210 c 39.522 135.526 39.078 135.710 38.631 135.710 c 38.185 135.710 37.741 135.526 37.425 135.210 c 37.109 134.894 36.925 134.450 36.925 134.003 c 36.925 133.557 37.109 133.113 37.425 132.797 c 37.741 132.481 38.185 132.297 38.631 132.297 c 39.078 132.297 39.522 132.481 39.838 132.797 c 40.154 133.113 40.337 133.557 40.337 134.003 c f BT 45.750 131.036 Td /F1 9.8 Tf [(26% \(411\) are ambulatory but not using steroids)] TJ ET 40.337 118.349 m 40.337 118.795 40.154 119.239 39.838 119.555 c 39.522 119.871 39.078 120.055 38.631 120.055 c 38.185 120.055 37.741 119.871 37.425 119.555 c 37.109 119.239 36.925 118.795 36.925 118.349 c 36.925 117.902 37.109 117.458 37.425 117.142 c 37.741 116.826 38.185 116.642 38.631 116.642 c 39.078 116.642 39.522 116.826 39.838 117.142 c 40.154 117.458 40.337 117.902 40.337 118.349 c f BT 45.750 115.381 Td /F1 9.8 Tf [(11% \(176\) are not ambulatory and using steroids)] TJ ET 40.337 102.694 m 40.337 103.141 40.154 103.585 39.838 103.901 c 39.522 104.216 39.078 104.400 38.631 104.400 c 38.185 104.400 37.741 104.216 37.425 103.901 c 37.109 103.585 36.925 103.141 36.925 102.694 c 36.925 102.247 37.109 101.803 37.425 101.487 c 37.741 101.172 38.185 100.988 38.631 100.988 c 39.078 100.988 39.522 101.172 39.838 101.487 c 40.154 101.803 40.337 102.247 40.337 102.694 c f BT 45.750 99.726 Td /F1 9.8 Tf [(20% \(319\) are not ambulatory and not using steroids)] TJ ET BT 26.250 76.572 Td /F1 9.8 Tf [(Figures 8 and 9 represent corticosteroid use among ambulatory and non-ambulatory patients.)] TJ ET 0.965 0.965 0.965 rg 26.250 -107.309 555.000 174.000 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 66.691 m 581.250 66.691 l 581.250 65.941 l 26.250 65.941 l f q 225.000 0 0 158.250 35.250 -101.309 cm /I22 Do Q q 35.250 -107.309 537.000 0.000 re W n Q Q q 15.000 -107.309 577.500 884.309 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(patient participants. Of 1,575 participants who responded to this question, 1,060 \(67%\) are ambulatory and 508 \(33%\) are non-)] TJ ET BT 26.250 755.571 Td /F1 9.8 Tf [(ambulatory. Of the non-ambulatory group, 1.4% have Becker, 30% have Duchenne, and 1.0% have an intermediary phenotype.)] TJ ET 0.965 0.965 0.965 rg 26.250 565.786 555.000 179.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 745.690 m 581.250 745.690 l 581.250 744.940 l 26.250 744.940 l f 26.250 565.786 m 581.250 565.786 l 581.250 566.536 l 26.250 566.536 l f q 225.000 0 0 135.000 35.250 600.940 cm /I20 Do Q q 35.250 577.036 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 585.417 Td /F4 9.8 Tf [(Fig. 6: Ambulation among patient participants in the Registry.)] TJ ET Q BT 26.250 548.762 Td /F1 9.8 Tf [(The mean age of full-time wheelchair use for those with Duchenne is 10.5 years, and for those with Becker is 21.5 years \(see )] TJ ET BT 26.250 536.857 Td /F1 9.8 Tf [(Figure 7\).)] TJ ET 0.965 0.965 0.965 rg 26.250 351.571 555.000 175.405 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 526.976 m 581.250 526.976 l 581.250 526.226 l 26.250 526.226 l f 26.250 351.571 m 581.250 351.571 l 581.250 352.321 l 26.250 352.321 l f q 225.000 0 0 130.500 35.250 386.726 cm /I21 Do Q q 35.250 362.821 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 371.202 Td /F4 9.8 Tf [(Fig. 7: Reported age of full-time wheelchair use.)] TJ ET Q BT 26.250 334.548 Td /F4 9.8 Tf [(Corticosteroid Use)] TJ ET BT 26.250 322.643 Td /F1 9.8 Tf [(Use of corticosteroids remains of strong interest to the community, especially following the adoption of the 2010 care )] TJ ET BT 26.250 310.738 Td /F1 9.8 Tf [(recommendations for Duchenne muscular dystrophy that confirm previously published basic guidelines as to their use \()] TJ ET 0.267 0.267 0.267 rg BT 538.866 310.738 Td /F1 9.8 Tf [([1])] TJ ET 0.271 0.267 0.267 rg BT 549.708 310.738 Td /F1 9.8 Tf [(\). Of )] TJ ET BT 26.250 298.833 Td /F1 9.8 Tf [(DuchenneConnect participants, 22% currently use prednisone and 29% currently use deflazacort. Thirty-six percent of )] TJ ET BT 26.250 286.929 Td /F1 9.8 Tf [(respondents have never used corticosteroids. Ten percent of respondents have used corticosteroids in the past but no longer )] TJ ET BT 26.250 275.024 Td /F1 9.8 Tf [(use them. Two percent were unsure about their corticosteroid use.)] TJ ET BT 26.250 255.619 Td /F1 9.8 Tf [(Among 1,564 patient participants:)] TJ ET 0.271 0.267 0.267 RG 40.337 239.182 m 40.337 239.629 40.154 240.073 39.838 240.389 c 39.522 240.704 39.078 240.888 38.631 240.888 c 38.185 240.888 37.741 240.704 37.425 240.389 c 37.109 240.073 36.925 239.629 36.925 239.182 c 36.925 238.735 37.109 238.291 37.425 237.975 c 37.741 237.660 38.185 237.476 38.631 237.476 c 39.078 237.476 39.522 237.660 39.838 237.975 c 40.154 238.291 40.337 238.735 40.337 239.182 c f BT 45.750 236.214 Td /F1 9.8 Tf [(28% \(444\) have Duchenne and use deflazacort)] TJ ET 40.337 223.527 m 40.337 223.974 40.154 224.418 39.838 224.734 c 39.522 225.050 39.078 225.233 38.631 225.233 c 38.185 225.233 37.741 225.050 37.425 224.734 c 37.109 224.418 36.925 223.974 36.925 223.527 c 36.925 223.081 37.109 222.637 37.425 222.321 c 37.741 222.005 38.185 221.821 38.631 221.821 c 39.078 221.821 39.522 222.005 39.838 222.321 c 40.154 222.637 40.337 223.081 40.337 223.527 c f BT 45.750 220.560 Td /F1 9.8 Tf [(21% \(322\) have Duchenne and use prednisone)] TJ ET 40.337 207.872 m 40.337 208.319 40.154 208.763 39.838 209.079 c 39.522 209.395 39.078 209.579 38.631 209.579 c 38.185 209.579 37.741 209.395 37.425 209.079 c 37.109 208.763 36.925 208.319 36.925 207.872 c 36.925 207.426 37.109 206.982 37.425 206.666 c 37.741 206.350 38.185 206.166 38.631 206.166 c 39.078 206.166 39.522 206.350 39.838 206.666 c 40.154 206.982 40.337 207.426 40.337 207.872 c f BT 45.750 204.905 Td /F1 9.8 Tf [(1% \(12\) have Becker and use either deflazacort or prednisone)] TJ ET 40.337 192.218 m 40.337 192.664 40.154 193.108 39.838 193.424 c 39.522 193.740 39.078 193.924 38.631 193.924 c 38.185 193.924 37.741 193.740 37.425 193.424 c 37.109 193.108 36.925 192.664 36.925 192.218 c 36.925 191.771 37.109 191.327 37.425 191.011 c 37.741 190.695 38.185 190.511 38.631 190.511 c 39.078 190.511 39.522 190.695 39.838 191.011 c 40.154 191.327 40.337 191.771 40.337 192.218 c f BT 45.750 189.250 Td /F1 9.8 Tf [(1% \(23\) have an intermediate presentation and use either deflazacort or prednisone)] TJ ET BT 26.250 166.095 Td /F1 9.8 Tf [(Of 1,564 participants who provided data about their ambulatory status and their corticosteroid use:)] TJ ET 40.337 149.658 m 40.337 150.105 40.154 150.549 39.838 150.865 c 39.522 151.181 39.078 151.364 38.631 151.364 c 38.185 151.364 37.741 151.181 37.425 150.865 c 37.109 150.549 36.925 150.105 36.925 149.658 c 36.925 149.212 37.109 148.768 37.425 148.452 c 37.741 148.136 38.185 147.952 38.631 147.952 c 39.078 147.952 39.522 148.136 39.838 148.452 c 40.154 148.768 40.337 149.212 40.337 149.658 c f BT 45.750 146.691 Td /F1 9.8 Tf [(40% \(624\) are ambulatory and use steroids)] TJ ET 40.337 134.003 m 40.337 134.450 40.154 134.894 39.838 135.210 c 39.522 135.526 39.078 135.710 38.631 135.710 c 38.185 135.710 37.741 135.526 37.425 135.210 c 37.109 134.894 36.925 134.450 36.925 134.003 c 36.925 133.557 37.109 133.113 37.425 132.797 c 37.741 132.481 38.185 132.297 38.631 132.297 c 39.078 132.297 39.522 132.481 39.838 132.797 c 40.154 133.113 40.337 133.557 40.337 134.003 c f BT 45.750 131.036 Td /F1 9.8 Tf [(26% \(411\) are ambulatory but not using steroids)] TJ ET 40.337 118.349 m 40.337 118.795 40.154 119.239 39.838 119.555 c 39.522 119.871 39.078 120.055 38.631 120.055 c 38.185 120.055 37.741 119.871 37.425 119.555 c 37.109 119.239 36.925 118.795 36.925 118.349 c 36.925 117.902 37.109 117.458 37.425 117.142 c 37.741 116.826 38.185 116.642 38.631 116.642 c 39.078 116.642 39.522 116.826 39.838 117.142 c 40.154 117.458 40.337 117.902 40.337 118.349 c f BT 45.750 115.381 Td /F1 9.8 Tf [(11% \(176\) are not ambulatory and using steroids)] TJ ET 40.337 102.694 m 40.337 103.141 40.154 103.585 39.838 103.901 c 39.522 104.216 39.078 104.400 38.631 104.400 c 38.185 104.400 37.741 104.216 37.425 103.901 c 37.109 103.585 36.925 103.141 36.925 102.694 c 36.925 102.247 37.109 101.803 37.425 101.487 c 37.741 101.172 38.185 100.988 38.631 100.988 c 39.078 100.988 39.522 101.172 39.838 101.487 c 40.154 101.803 40.337 102.247 40.337 102.694 c f BT 45.750 99.726 Td /F1 9.8 Tf [(20% \(319\) are not ambulatory and not using steroids)] TJ ET BT 26.250 76.572 Td /F1 9.8 Tf [(Figures 8 and 9 represent corticosteroid use among ambulatory and non-ambulatory patients.)] TJ ET 0.965 0.965 0.965 rg 26.250 -107.309 555.000 174.000 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 66.691 m 581.250 66.691 l 581.250 65.941 l 26.250 65.941 l f q 225.000 0 0 158.250 35.250 -101.309 cm /I22 Do Q q 35.250 -107.309 537.000 0.000 re W n Q Q q 225.000 0 0 135.000 35.250 600.940 cm /I20 Do Q q 225.000 0 0 130.500 35.250 386.726 cm /I21 Do Q q 225.000 0 0 158.250 35.250 -101.309 cm /I22 Do Q q 0.000 0.000 0.000 rg BT 291.710 19.825 Td /F1 11.0 Tf [(5)] TJ ET BT 25.000 19.825 Td /F1 11.0 Tf [(PLOS Currents Muscular Dystrophy)] TJ ET Q endstream endobj 118 0 obj << /Type /Annot /Subtype /Link /A 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Molecular genetic testing for )] TJ ET BT 26.250 476.202 Td /F1 9.8 Tf [(Duchenne/Becker has experienced vast improvements in the past decade, and is currently a recommended aspect of )] TJ ET BT 26.250 464.298 Td /F1 9.8 Tf [(confirming a diagnosis of muscular dystrophy \()] TJ ET 0.267 0.267 0.267 rg BT 227.275 464.298 Td /F1 9.8 Tf [([1])] TJ ET 0.271 0.267 0.267 rg BT 238.118 464.298 Td /F1 9.8 Tf [(\). In the registry questionnaire, participants may enter the type and location of )] TJ ET BT 26.250 452.393 Td /F1 9.8 Tf [(the causative mutation. This information is curated by the DuchenneConnect Coordinator. We encourage all participants to )] TJ ET BT 26.250 440.488 Td /F1 9.8 Tf [(submit a copy of their genetic testing report, which is reviewed by the Coordinators and results are entered into the registry )] TJ ET BT 26.250 428.583 Td /F1 9.8 Tf [(using the standard nomenclature, according to the NCBI Reference Sequence \(NM_004006.2\). Of 1756 participants, 1,432 )] TJ ET BT 26.250 416.679 Td /F1 9.8 Tf [(\(82%\) indicated they had genetic testing, and 234 \(14%\) indicate they have not had or were unsure if they have had genetic )] TJ ET BT 26.250 404.774 Td /F1 9.8 Tf [(testing. Ninety participants \(5%\) did not indicate whether they had genetic testing. Among 682 who submitted results, the )] TJ ET BT 26.250 392.869 Td /F1 9.8 Tf [(DuchenneConnect Coordinator determined that 34% \(232\) warrant additional testing to further identify or interpret the results. Of )] TJ ET BT 26.250 380.964 Td /F1 9.8 Tf [(988 participants who described the mutation, 35% \(354\) have not submitted a copy of the test report to DuchenneConnect. For )] TJ ET BT 26.250 369.060 Td /F1 9.8 Tf [(the Duchenne group, 74% \(612\) of participants report that results of genetic testing described a deletion one or more exon in )] TJ ET BT 26.250 357.155 Td /F1 9.8 Tf [(size, whereas in Becker 63% \(34\) report a deletion one or more exon in size. Duplications one or more exon in size are reported )] TJ ET BT 26.250 345.250 Td /F1 9.8 Tf [(by 10% \(79\) of participants with Duchenne and 11% \(6\) with Becker. See Table 3 for a summary of mutation status by )] TJ ET BT 26.250 333.345 Td /F1 9.8 Tf [(diagnosis. Participants who have not had comprehensive genetic testing \(i.e., testing able to identify less common types of )] TJ ET BT 26.250 321.441 Td /F1 9.8 Tf [(mutations\) may lead to an over-representation of more commonly detectable mutation types.)] TJ ET q 450.000 0 0 139.500 26.250 172.060 cm /I24 Do Q BT 26.250 155.036 Td /F4 9.8 Tf [(Table 3. Types of gene mutations by diagnosis \(n=912\). Key: Deletion & Duplication refer to mutations of one or more )] TJ ET BT 26.250 143.131 Td /F4 9.8 Tf [(exons in size typically detected by array, MLPA or similar technologies. All other mutation types refer to smaller )] TJ ET BT 26.250 131.226 Td /F4 9.8 Tf [(mutations typically identified by sequence analysis or similar technologies. In/del refers to co-localized insertion and )] TJ ET BT 26.250 119.322 Td /F4 9.8 Tf [(deletion of base pairs.)] TJ ET BT 26.250 99.917 Td /F4 9.8 Tf [(Pulmonary Status)] TJ ET BT 26.250 80.512 Td /F1 9.8 Tf [(Individuals with DBMD experience progressive deterioration of respiratory muscle strength resulting in complications such as )] TJ ET BT 26.250 68.607 Td /F1 9.8 Tf [(insufficient cough, hypoventilation, and ultimately respiratory failure \()] TJ ET 0.267 0.267 0.267 rg BT 321.577 68.607 Td /F1 9.8 Tf [([2])] TJ ET 0.271 0.267 0.267 rg BT 332.419 68.607 Td /F1 9.8 Tf [(\), and thus tracking of pulmonary status is a core )] TJ ET BT 26.250 56.703 Td /F1 9.8 Tf [(component to care. Of 1552 patient participants, 554 \(36%\) report they have had a forced vital capacity test \(a minimum )] TJ ET BT 26.250 44.798 Td /F1 9.8 Tf [(assessment of pulmonary function\), 826 \(53%\) have not had a forced vital capacity test, and 172 \(11%\) are unsure whether the )] TJ ET Q q 15.000 30.512 577.500 746.488 re W n 0.965 0.965 0.965 rg 26.250 747.845 555.000 29.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 747.845 m 581.250 747.845 l 581.250 748.595 l 26.250 748.595 l f q 35.250 759.095 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 767.476 Td /F4 9.8 Tf [(Fig. 8: Distribution of ambulatory patients with and without steroids by age.)] TJ ET Q 0.965 0.965 0.965 rg 26.250 536.440 555.000 203.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 740.345 m 581.250 740.345 l 581.250 739.595 l 26.250 739.595 l f 26.250 536.441 m 581.250 536.441 l 581.250 537.191 l 26.250 537.191 l f q 225.000 0 0 159.000 35.250 571.595 cm /I23 Do Q q 35.250 547.690 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 556.071 Td /F4 9.8 Tf [(Fig. 9: Distribution of non-ambulatory patients with and without steroids by age.)] TJ ET Q BT 26.250 519.417 Td /F4 9.8 Tf [(Genetic Mutation Status)] TJ ET BT 26.250 500.012 Td /F1 9.8 Tf [(Dystrophinopathies are caused by a variety of types of mutations in the dystrophin gene \(exonic deletions and duplications, a )] TJ ET BT 26.250 488.107 Td /F1 9.8 Tf [(range of smaller mutations within exons, as well as rare deletions to non-coding regions\). Molecular genetic testing for )] TJ ET BT 26.250 476.202 Td /F1 9.8 Tf [(Duchenne/Becker has experienced vast improvements in the past decade, and is currently a recommended aspect of )] TJ ET BT 26.250 464.298 Td /F1 9.8 Tf [(confirming a diagnosis of muscular dystrophy \()] TJ ET 0.267 0.267 0.267 rg BT 227.275 464.298 Td /F1 9.8 Tf [([1])] TJ ET 0.271 0.267 0.267 rg BT 238.118 464.298 Td /F1 9.8 Tf [(\). In the registry questionnaire, participants may enter the type and location of )] TJ ET BT 26.250 452.393 Td /F1 9.8 Tf [(the causative mutation. This information is curated by the DuchenneConnect Coordinator. We encourage all participants to )] TJ ET BT 26.250 440.488 Td /F1 9.8 Tf [(submit a copy of their genetic testing report, which is reviewed by the Coordinators and results are entered into the registry )] TJ ET BT 26.250 428.583 Td /F1 9.8 Tf [(using the standard nomenclature, according to the NCBI Reference Sequence \(NM_004006.2\). Of 1756 participants, 1,432 )] TJ ET BT 26.250 416.679 Td /F1 9.8 Tf [(\(82%\) indicated they had genetic testing, and 234 \(14%\) indicate they have not had or were unsure if they have had genetic )] TJ ET BT 26.250 404.774 Td /F1 9.8 Tf [(testing. Ninety participants \(5%\) did not indicate whether they had genetic testing. Among 682 who submitted results, the )] TJ ET BT 26.250 392.869 Td /F1 9.8 Tf [(DuchenneConnect Coordinator determined that 34% \(232\) warrant additional testing to further identify or interpret the results. Of )] TJ ET BT 26.250 380.964 Td /F1 9.8 Tf [(988 participants who described the mutation, 35% \(354\) have not submitted a copy of the test report to DuchenneConnect. For )] TJ ET BT 26.250 369.060 Td /F1 9.8 Tf [(the Duchenne group, 74% \(612\) of participants report that results of genetic testing described a deletion one or more exon in )] TJ ET BT 26.250 357.155 Td /F1 9.8 Tf [(size, whereas in Becker 63% \(34\) report a deletion one or more exon in size. Duplications one or more exon in size are reported )] TJ ET BT 26.250 345.250 Td /F1 9.8 Tf [(by 10% \(79\) of participants with Duchenne and 11% \(6\) with Becker. See Table 3 for a summary of mutation status by )] TJ ET BT 26.250 333.345 Td /F1 9.8 Tf [(diagnosis. Participants who have not had comprehensive genetic testing \(i.e., testing able to identify less common types of )] TJ ET BT 26.250 321.441 Td /F1 9.8 Tf [(mutations\) may lead to an over-representation of more commonly detectable mutation types.)] TJ ET q 450.000 0 0 139.500 26.250 172.060 cm /I24 Do Q BT 26.250 155.036 Td /F4 9.8 Tf [(Table 3. Types of gene mutations by diagnosis \(n=912\). Key: Deletion & Duplication refer to mutations of one or more )] TJ ET BT 26.250 143.131 Td /F4 9.8 Tf [(exons in size typically detected by array, MLPA or similar technologies. All other mutation types refer to smaller )] TJ ET BT 26.250 131.226 Td /F4 9.8 Tf [(mutations typically identified by sequence analysis or similar technologies. In/del refers to co-localized insertion and )] TJ ET BT 26.250 119.322 Td /F4 9.8 Tf [(deletion of base pairs.)] TJ ET BT 26.250 99.917 Td /F4 9.8 Tf [(Pulmonary Status)] TJ ET BT 26.250 80.512 Td /F1 9.8 Tf [(Individuals with DBMD experience progressive deterioration of respiratory muscle strength resulting in complications such as )] TJ ET BT 26.250 68.607 Td /F1 9.8 Tf [(insufficient cough, hypoventilation, and ultimately respiratory failure \()] TJ ET 0.267 0.267 0.267 rg BT 321.577 68.607 Td /F1 9.8 Tf [([2])] TJ ET 0.271 0.267 0.267 rg BT 332.419 68.607 Td /F1 9.8 Tf [(\), and thus tracking of pulmonary status is a core )] TJ ET BT 26.250 56.703 Td /F1 9.8 Tf [(component to care. Of 1552 patient participants, 554 \(36%\) report they have had a forced vital capacity test \(a minimum )] TJ ET BT 26.250 44.798 Td /F1 9.8 Tf [(assessment of pulmonary function\), 826 \(53%\) have not had a forced vital capacity test, and 172 \(11%\) are unsure whether the )] TJ ET Q q 15.000 30.512 577.500 746.488 re W n 0.965 0.965 0.965 rg 26.250 747.845 555.000 29.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 747.845 m 581.250 747.845 l 581.250 748.595 l 26.250 748.595 l f q 35.250 759.095 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 767.476 Td /F4 9.8 Tf [(Fig. 8: Distribution of ambulatory patients with and without steroids by age.)] TJ ET Q 0.965 0.965 0.965 rg 26.250 536.440 555.000 203.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 740.345 m 581.250 740.345 l 581.250 739.595 l 26.250 739.595 l f 26.250 536.441 m 581.250 536.441 l 581.250 537.191 l 26.250 537.191 l f q 225.000 0 0 159.000 35.250 571.595 cm /I23 Do Q q 35.250 547.690 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 556.071 Td /F4 9.8 Tf [(Fig. 9: Distribution of non-ambulatory patients with and without steroids by age.)] TJ ET Q BT 26.250 519.417 Td /F4 9.8 Tf [(Genetic Mutation Status)] TJ ET BT 26.250 500.012 Td /F1 9.8 Tf [(Dystrophinopathies are caused by a variety of types of mutations in the dystrophin gene \(exonic deletions and duplications, a )] TJ ET BT 26.250 488.107 Td /F1 9.8 Tf [(range of smaller mutations within exons, as well as rare deletions to non-coding regions\). Molecular genetic testing for )] TJ ET BT 26.250 476.202 Td /F1 9.8 Tf [(Duchenne/Becker has experienced vast improvements in the past decade, and is currently a recommended aspect of )] TJ ET BT 26.250 464.298 Td /F1 9.8 Tf [(confirming a diagnosis of muscular dystrophy \()] TJ ET 0.267 0.267 0.267 rg BT 227.275 464.298 Td /F1 9.8 Tf [([1])] TJ ET 0.271 0.267 0.267 rg BT 238.118 464.298 Td /F1 9.8 Tf [(\). In the registry questionnaire, participants may enter the type and location of )] TJ ET BT 26.250 452.393 Td /F1 9.8 Tf [(the causative mutation. This information is curated by the DuchenneConnect Coordinator. We encourage all participants to )] TJ ET BT 26.250 440.488 Td /F1 9.8 Tf [(submit a copy of their genetic testing report, which is reviewed by the Coordinators and results are entered into the registry )] TJ ET BT 26.250 428.583 Td /F1 9.8 Tf [(using the standard nomenclature, according to the NCBI Reference Sequence \(NM_004006.2\). Of 1756 participants, 1,432 )] TJ ET BT 26.250 416.679 Td /F1 9.8 Tf [(\(82%\) indicated they had genetic testing, and 234 \(14%\) indicate they have not had or were unsure if they have had genetic )] TJ ET BT 26.250 404.774 Td /F1 9.8 Tf [(testing. Ninety participants \(5%\) did not indicate whether they had genetic testing. Among 682 who submitted results, the )] TJ ET BT 26.250 392.869 Td /F1 9.8 Tf [(DuchenneConnect Coordinator determined that 34% \(232\) warrant additional testing to further identify or interpret the results. Of )] TJ ET BT 26.250 380.964 Td /F1 9.8 Tf [(988 participants who described the mutation, 35% \(354\) have not submitted a copy of the test report to DuchenneConnect. For )] TJ ET BT 26.250 369.060 Td /F1 9.8 Tf [(the Duchenne group, 74% \(612\) of participants report that results of genetic testing described a deletion one or more exon in )] TJ ET BT 26.250 357.155 Td /F1 9.8 Tf [(size, whereas in Becker 63% \(34\) report a deletion one or more exon in size. Duplications one or more exon in size are reported )] TJ ET BT 26.250 345.250 Td /F1 9.8 Tf [(by 10% \(79\) of participants with Duchenne and 11% \(6\) with Becker. See Table 3 for a summary of mutation status by )] TJ ET BT 26.250 333.345 Td /F1 9.8 Tf [(diagnosis. Participants who have not had comprehensive genetic testing \(i.e., testing able to identify less common types of )] TJ ET BT 26.250 321.441 Td /F1 9.8 Tf [(mutations\) may lead to an over-representation of more commonly detectable mutation types.)] TJ ET q 450.000 0 0 139.500 26.250 172.060 cm /I24 Do Q BT 26.250 155.036 Td /F4 9.8 Tf [(Table 3. Types of gene mutations by diagnosis \(n=912\). Key: Deletion & Duplication refer to mutations of one or more )] TJ ET BT 26.250 143.131 Td /F4 9.8 Tf [(exons in size typically detected by array, MLPA or similar technologies. All other mutation types refer to smaller )] TJ ET BT 26.250 131.226 Td /F4 9.8 Tf [(mutations typically identified by sequence analysis or similar technologies. In/del refers to co-localized insertion and )] TJ ET BT 26.250 119.322 Td /F4 9.8 Tf [(deletion of base pairs.)] TJ ET BT 26.250 99.917 Td /F4 9.8 Tf [(Pulmonary Status)] TJ ET BT 26.250 80.512 Td /F1 9.8 Tf [(Individuals with DBMD experience progressive deterioration of respiratory muscle strength resulting in complications such as )] TJ ET BT 26.250 68.607 Td /F1 9.8 Tf [(insufficient cough, hypoventilation, and ultimately respiratory failure \()] TJ ET 0.267 0.267 0.267 rg BT 321.577 68.607 Td /F1 9.8 Tf [([2])] TJ ET 0.271 0.267 0.267 rg BT 332.419 68.607 Td /F1 9.8 Tf [(\), and thus tracking of pulmonary status is a core )] TJ ET BT 26.250 56.703 Td /F1 9.8 Tf [(component to care. 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Additionally, 592 \(65%\) of those with Duchenne and 59 \(7%\) Becker )] TJ ET BT 26.250 724.262 Td /F1 9.8 Tf [(participants report not using a device; 39 patients with an intermediate phenotype do not use a breathing devise. Among )] TJ ET BT 26.250 712.357 Td /F1 9.8 Tf [(devices used, 37% \(79\) use Cough Assist and 36% \(78\) use BiPAP. Figure 10 provides additional detail on use of breathing )] TJ ET BT 26.250 700.452 Td /F1 9.8 Tf [(devices.)] TJ ET 0.965 0.965 0.965 rg 26.250 512.917 555.000 177.655 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 690.572 m 581.250 690.572 l 581.250 689.822 l 26.250 689.822 l f 26.250 512.917 m 581.250 512.917 l 581.250 513.667 l 26.250 513.667 l f q 225.000 0 0 132.750 35.250 548.072 cm /I25 Do Q q 35.250 524.167 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 532.548 Td /F4 9.8 Tf [(Fig. 10: Use of breathing devices reported by participants.)] TJ ET Q BT 26.250 495.893 Td /F4 9.8 Tf [(Cardiac)] TJ ET BT 26.250 476.488 Td /F1 9.8 Tf [(Progressive cardiomyopathy is a major source of morbidity and mortality in DBMD, and there is disease in the myocardium well )] TJ ET BT 26.250 464.583 Td /F1 9.8 Tf [(before the onset of clinical symptoms \()] TJ ET 0.267 0.267 0.267 rg BT 192.605 464.583 Td /F1 9.8 Tf [([2])] TJ ET 0.271 0.267 0.267 rg BT 203.447 464.583 Td /F1 9.8 Tf [(\). Of 1565 respondents, 81% \(1265\) of participants report they do not have )] TJ ET BT 26.250 452.679 Td /F1 9.8 Tf [(cardiomyopathy; this includes 80% \(1100\) of those with Duchenne, 82% \(94\) of those with Becker, and 86% \(71\) of those with )] TJ ET BT 26.250 440.774 Td /F1 9.8 Tf [(an intermediate phenotype. Sixteen percent \(216\) of those with Duchenne, 15% \(17\) of those with Becker, and 10% \(8\) of those )] TJ ET BT 26.250 428.869 Td /F1 9.8 Tf [(with an intermediate phenotype report having cardiomyopathy. The remaining individuals reported not knowing whether they )] TJ ET BT 26.250 416.964 Td /F1 9.8 Tf [(had cardiomyopathy. Figure 11 shows information on age and diagnosis in those who report having cardiomyopathy.)] TJ ET 0.965 0.965 0.965 rg 26.250 209.179 555.000 197.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 407.083 m 581.250 407.083 l 581.250 406.333 l 26.250 406.333 l f 26.250 209.179 m 581.250 209.179 l 581.250 209.929 l 26.250 209.929 l f q 225.000 0 0 153.000 35.250 244.333 cm /I26 Do Q q 35.250 220.429 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 228.810 Td /F4 9.8 Tf [(Fig. 11: Participants reporting a diagnosis of cardiomyopathy, grouped by ages and diagnosis.)] TJ ET Q BT 26.250 192.155 Td /F1 9.8 Tf [(Of 1581 patient respondents, 1,005 \(60%\) report not taking any cardiac medications. Seven percent \(122\) take CoEnzyme Q10, )] TJ ET BT 26.250 180.250 Td /F1 9.8 Tf [(8% \(140\) take Lisinopril, and 6% \(110\) take Enalapril. Use of other cardiac medications is reported among less than 5% of )] TJ ET BT 26.250 168.345 Td /F1 9.8 Tf [(participants.)] TJ ET BT 26.250 148.941 Td /F4 9.8 Tf [(Supportive Therapies)] TJ ET BT 26.250 129.536 Td /F1 9.8 Tf [(The DuchenneConnect registry collects data regarding participants use of many supportive therapies, including health )] TJ ET BT 26.250 117.631 Td /F1 9.8 Tf [(therapies, rehabilitative therapies, vitamins/supplements/other medications, and alternative/naturopathic therapies. Physical and )] TJ ET BT 26.250 105.726 Td /F1 9.8 Tf [(occupational therapies are among those most frequently used by participants \(34% and 17%, respectively\). See figure 12.)] TJ ET 0.965 0.965 0.965 rg 26.250 -40.655 555.000 136.500 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 95.845 m 581.250 95.845 l 581.250 95.095 l 26.250 95.095 l f q 225.000 0 0 120.750 35.250 -34.655 cm /I27 Do Q q 35.250 -40.655 537.000 0.000 re W n Q Q q 15.000 -40.655 577.500 817.655 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(test has been performed.)] TJ ET BT 26.250 748.071 Td /F1 9.8 Tf [(Of 905 patient participants who responded to this item, 203 \(22%\) of participants with Duchenne and 7 \(1%\) of participants with )] TJ ET BT 26.250 736.167 Td /F1 9.8 Tf [(Becker participants report using a breathing device. Additionally, 592 \(65%\) of those with Duchenne and 59 \(7%\) Becker )] TJ ET BT 26.250 724.262 Td /F1 9.8 Tf [(participants report not using a device; 39 patients with an intermediate phenotype do not use a breathing devise. Among )] TJ ET BT 26.250 712.357 Td /F1 9.8 Tf [(devices used, 37% \(79\) use Cough Assist and 36% \(78\) use BiPAP. Figure 10 provides additional detail on use of breathing )] TJ ET BT 26.250 700.452 Td /F1 9.8 Tf [(devices.)] TJ ET 0.965 0.965 0.965 rg 26.250 512.917 555.000 177.655 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 690.572 m 581.250 690.572 l 581.250 689.822 l 26.250 689.822 l f 26.250 512.917 m 581.250 512.917 l 581.250 513.667 l 26.250 513.667 l f q 225.000 0 0 132.750 35.250 548.072 cm /I25 Do Q q 35.250 524.167 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 532.548 Td /F4 9.8 Tf [(Fig. 10: Use of breathing devices reported by participants.)] TJ ET Q BT 26.250 495.893 Td /F4 9.8 Tf [(Cardiac)] TJ ET BT 26.250 476.488 Td /F1 9.8 Tf [(Progressive cardiomyopathy is a major source of morbidity and mortality in DBMD, and there is disease in the myocardium well )] TJ ET BT 26.250 464.583 Td /F1 9.8 Tf [(before the onset of clinical symptoms \()] TJ ET 0.267 0.267 0.267 rg BT 192.605 464.583 Td /F1 9.8 Tf [([2])] TJ ET 0.271 0.267 0.267 rg BT 203.447 464.583 Td /F1 9.8 Tf [(\). Of 1565 respondents, 81% \(1265\) of participants report they do not have )] TJ ET BT 26.250 452.679 Td /F1 9.8 Tf [(cardiomyopathy; this includes 80% \(1100\) of those with Duchenne, 82% \(94\) of those with Becker, and 86% \(71\) of those with )] TJ ET BT 26.250 440.774 Td /F1 9.8 Tf [(an intermediate phenotype. Sixteen percent \(216\) of those with Duchenne, 15% \(17\) of those with Becker, and 10% \(8\) of those )] TJ ET BT 26.250 428.869 Td /F1 9.8 Tf [(with an intermediate phenotype report having cardiomyopathy. The remaining individuals reported not knowing whether they )] TJ ET BT 26.250 416.964 Td /F1 9.8 Tf [(had cardiomyopathy. Figure 11 shows information on age and diagnosis in those who report having cardiomyopathy.)] TJ ET 0.965 0.965 0.965 rg 26.250 209.179 555.000 197.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 407.083 m 581.250 407.083 l 581.250 406.333 l 26.250 406.333 l f 26.250 209.179 m 581.250 209.179 l 581.250 209.929 l 26.250 209.929 l f q 225.000 0 0 153.000 35.250 244.333 cm /I26 Do Q q 35.250 220.429 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 228.810 Td /F4 9.8 Tf [(Fig. 11: Participants reporting a diagnosis of cardiomyopathy, grouped by ages and diagnosis.)] TJ ET Q BT 26.250 192.155 Td /F1 9.8 Tf [(Of 1581 patient respondents, 1,005 \(60%\) report not taking any cardiac medications. Seven percent \(122\) take CoEnzyme Q10, )] TJ ET BT 26.250 180.250 Td /F1 9.8 Tf [(8% \(140\) take Lisinopril, and 6% \(110\) take Enalapril. Use of other cardiac medications is reported among less than 5% of )] TJ ET BT 26.250 168.345 Td /F1 9.8 Tf [(participants.)] TJ ET BT 26.250 148.941 Td /F4 9.8 Tf [(Supportive Therapies)] TJ ET BT 26.250 129.536 Td /F1 9.8 Tf [(The DuchenneConnect registry collects data regarding participants use of many supportive therapies, including health )] TJ ET BT 26.250 117.631 Td /F1 9.8 Tf [(therapies, rehabilitative therapies, vitamins/supplements/other medications, and alternative/naturopathic therapies. Physical and )] TJ ET BT 26.250 105.726 Td /F1 9.8 Tf [(occupational therapies are among those most frequently used by participants \(34% and 17%, respectively\). See figure 12.)] TJ ET 0.965 0.965 0.965 rg 26.250 -40.655 555.000 136.500 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 95.845 m 581.250 95.845 l 581.250 95.095 l 26.250 95.095 l f q 225.000 0 0 120.750 35.250 -34.655 cm /I27 Do Q q 35.250 -40.655 537.000 0.000 re W n Q Q q 15.000 -40.655 577.500 817.655 re W n 0.271 0.267 0.267 rg BT 26.250 767.476 Td /F1 9.8 Tf [(test has been performed.)] TJ ET BT 26.250 748.071 Td /F1 9.8 Tf [(Of 905 patient participants who responded to this item, 203 \(22%\) of participants with Duchenne and 7 \(1%\) of participants with )] TJ ET BT 26.250 736.167 Td /F1 9.8 Tf [(Becker participants report using a breathing device. Additionally, 592 \(65%\) of those with Duchenne and 59 \(7%\) Becker )] TJ ET BT 26.250 724.262 Td /F1 9.8 Tf [(participants report not using a device; 39 patients with an intermediate phenotype do not use a breathing devise. Among )] TJ ET BT 26.250 712.357 Td /F1 9.8 Tf [(devices used, 37% \(79\) use Cough Assist and 36% \(78\) use BiPAP. Figure 10 provides additional detail on use of breathing )] TJ ET BT 26.250 700.452 Td /F1 9.8 Tf [(devices.)] TJ ET 0.965 0.965 0.965 rg 26.250 512.917 555.000 177.655 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 690.572 m 581.250 690.572 l 581.250 689.822 l 26.250 689.822 l f 26.250 512.917 m 581.250 512.917 l 581.250 513.667 l 26.250 513.667 l f q 225.000 0 0 132.750 35.250 548.072 cm /I25 Do Q q 35.250 524.167 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 532.548 Td /F4 9.8 Tf [(Fig. 10: Use of breathing devices reported by participants.)] TJ ET Q BT 26.250 495.893 Td /F4 9.8 Tf [(Cardiac)] TJ ET BT 26.250 476.488 Td /F1 9.8 Tf [(Progressive cardiomyopathy is a major source of morbidity and mortality in DBMD, and there is disease in the myocardium well )] TJ ET BT 26.250 464.583 Td /F1 9.8 Tf [(before the onset of clinical symptoms \()] TJ ET 0.267 0.267 0.267 rg BT 192.605 464.583 Td /F1 9.8 Tf [([2])] TJ ET 0.271 0.267 0.267 rg BT 203.447 464.583 Td /F1 9.8 Tf [(\). Of 1565 respondents, 81% \(1265\) of participants report they do not have )] TJ ET BT 26.250 452.679 Td /F1 9.8 Tf [(cardiomyopathy; this includes 80% \(1100\) of those with Duchenne, 82% \(94\) of those with Becker, and 86% \(71\) of those with )] TJ ET BT 26.250 440.774 Td /F1 9.8 Tf [(an intermediate phenotype. Sixteen percent \(216\) of those with Duchenne, 15% \(17\) of those with Becker, and 10% \(8\) of those )] TJ ET BT 26.250 428.869 Td /F1 9.8 Tf [(with an intermediate phenotype report having cardiomyopathy. The remaining individuals reported not knowing whether they )] TJ ET BT 26.250 416.964 Td /F1 9.8 Tf [(had cardiomyopathy. Figure 11 shows information on age and diagnosis in those who report having cardiomyopathy.)] TJ ET 0.965 0.965 0.965 rg 26.250 209.179 555.000 197.905 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 407.083 m 581.250 407.083 l 581.250 406.333 l 26.250 406.333 l f 26.250 209.179 m 581.250 209.179 l 581.250 209.929 l 26.250 209.929 l f q 225.000 0 0 153.000 35.250 244.333 cm /I26 Do Q q 35.250 220.429 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 228.810 Td /F4 9.8 Tf [(Fig. 11: Participants reporting a diagnosis of cardiomyopathy, grouped by ages and diagnosis.)] TJ ET Q BT 26.250 192.155 Td /F1 9.8 Tf [(Of 1581 patient respondents, 1,005 \(60%\) report not taking any cardiac medications. Seven percent \(122\) take CoEnzyme Q10, )] TJ ET BT 26.250 180.250 Td /F1 9.8 Tf [(8% \(140\) take Lisinopril, and 6% \(110\) take Enalapril. Use of other cardiac medications is reported among less than 5% of )] TJ ET BT 26.250 168.345 Td /F1 9.8 Tf [(participants.)] TJ ET BT 26.250 148.941 Td /F4 9.8 Tf [(Supportive Therapies)] TJ ET BT 26.250 129.536 Td /F1 9.8 Tf [(The DuchenneConnect registry collects data regarding participants use of many supportive therapies, including health )] TJ ET BT 26.250 117.631 Td /F1 9.8 Tf [(therapies, rehabilitative therapies, vitamins/supplements/other medications, and alternative/naturopathic therapies. Physical and )] TJ ET BT 26.250 105.726 Td /F1 9.8 Tf [(occupational therapies are among those most frequently used by participants \(34% and 17%, respectively\). See figure 12.)] TJ ET 0.965 0.965 0.965 rg 26.250 -40.655 555.000 136.500 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 95.845 m 581.250 95.845 l 581.250 95.095 l 26.250 95.095 l f q 225.000 0 0 120.750 35.250 -34.655 cm /I27 Do Q q 35.250 -40.655 537.000 0.000 re W n Q Q q 225.000 0 0 132.750 35.250 548.072 cm /I25 Do Q q 225.000 0 0 153.000 35.250 244.333 cm /I26 Do Q q 225.000 0 0 120.750 35.250 -34.655 cm /I27 Do Q q 0.000 0.000 0.000 rg BT 291.710 19.825 Td /F1 11.0 Tf [(7)] TJ ET BT 25.000 19.825 Td /F1 11.0 Tf [(PLOS Currents Muscular Dystrophy)] TJ ET Q endstream endobj 169 0 obj << /Type /Annot /Subtype /Link /A 170 0 R /Border [0 0 0] /H /I /Rect [ 35.2500 548.0715 260.2500 680.8215 ] >> endobj 170 0 obj << /Type /Action /S /URI /URI (http://currents.plos.org/md/files/2012/04/DuchCon-Fig10.jpg) >> endobj 171 0 obj << /Type /XObject /Subtype /Image /Width 300 /Height 177 /ColorSpace /DeviceRGB /Filter /DCTDecode /BitsPerComponent 8 /Length 9710>> stream JFIF;CREATOR: gd-jpeg v1.0 (using IJG JPEG v62), quality = 90 C     C   ," }!1AQa"q2#BR$3br %&'()*456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz w!1AQaq"2B #3Rbr $4%&'()*56789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz ?R1@b(? ? 1F(bŠCr⧄1k]!M}_cCtQP.Jҫjz型]:664725P$03Ҁ/\ޏAAuiڌWù}LymT=yբh4O$H0R30H"7~ׁ=k!KxbOdX[G}B!t:[vJc$]EAcY74z<0 qxb33@T( RiZh$u45h2ok eEeAlf>*!xYu85u3oZ@-oe{5;|c+PѨ@A*y'2joJngIR.O!cui%?jm  5eךe#α#0F*̸s#>|7o~0Pުp/{ Fϒg*34f> FI]:7躤-|ЕEnRF#"៍4-[iyuUd`ןdI<~4>? 7:}W6~!/'{g-bmK3c-vZ|)kɣxRr[_y{?2gy9K6Wjg}0k(fMí;TFP#7$o,pI玜צQEQEQEQEQEPEP( )i(bƌ1GG@h(PE-%ZJ3EQKI@Q@RnhaIR);dTpJBJ8(&Df`q9idX̊$`JnHp?@K3P2I8RyɄ;N~~? }f(((jziz}ܑ*Bv46;*%fGEk7kk3Gm&K%۾ip=vl/.w-ݽ]ۧ\m XnYAQIHmt]Oᇈ-4HQ%Hźa.Nˀ2J) *'5Gï[kFlFoiƖ @6wfKb9#bF]_\xmB 9i kμAK=Y81XmkHҜSF&~$4ވB)*0"7G}`K9+&byNhD8;GB8}GWN5 z8sj^]pjp%6a֕phӕY+eV sNRv]]']YX__Ku$?Ba#n\ >qd '+*@sϵ|'_7rSIQ!٫nizŤzF6@<޼K7a]ϠpUJ%Z-xWVP>f\I]Fj^!fW@⾒YV.*>~9s^@~ΉzmL,Wo|\#Ěm7HN\3֧ͻ4g8}h(C^ "hM-eZeKEYcc[ On}=Q0ڵYSMG3}4xH}i{:ַ! 4NωYx_#bjb(Km{[E;Gn\;ȷ ;s r~dJ῁[]?]xRmUdO8'D`BKf}Q_i֦Jh}]Yni%$lɶNG-oSPo*M#r=0hPK 6r_~9{^$ҴJa)H]XX=(PJZ(83U5{y˘m^wBs+g`Aǡy=Zj}y'{-% &⏉tF'7R` cd^e>`[G@T.8LhaiVB>7 h@7!m#mFXm] "y Bq# ־+cQ:-.&'{Hީϗh``Vq~ |S_Mecv";*]HZ)Q_capd꽭ZCQHPO@Š()i)h()H)9֓{d<)e.Kl5C裟’WEk^>l3?9X Vֽ =L 6e}B}Q}(Ҧ?KjLqn#>[U s?J1ȯNt4U9jKSA&=IҪo XWǵ?j~aYxN#]܊88> R? 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Use of supplements, vitamins, other medications reported by participants \(participants can choose more than )] TJ ET BT 26.250 491.107 Td /F4 9.8 Tf [(one\).)] TJ ET BT 26.250 454.505 Td /F4 12.0 Tf [(Summary)] TJ ET BT 26.250 434.550 Td /F1 9.8 Tf [(The DuchenneConnect registry holds data about DBMD of interest to academic researchers, clinical investigators, and industry. )] TJ ET BT 26.250 422.646 Td /F1 9.8 Tf [(This includes family history, genetic mutation status, ambulation, corticosteroid use, pulmonary and cardiac function, and )] TJ ET BT 26.250 410.741 Td /F1 9.8 Tf [(supplement use. De-identified data is made available to academic and industry partners to advance our understanding of )] TJ ET BT 26.250 398.836 Td /F1 9.8 Tf [(natural history and facilitate the drug development and clinical trial process. Participants in the registry benefit from educational )] TJ ET BT 26.250 386.931 Td /F1 9.8 Tf [(materials and targeted contacts about relevant clinical trials. Looking forward, a new report of selected registry data will be )] TJ ET BT 26.250 375.027 Td /F1 9.8 Tf [(available biannually through the registry website. Bivariate and multivariate analyses of clinical interest are in process and will )] TJ ET BT 26.250 363.122 Td /F1 9.8 Tf [(be reported in the near future.)] TJ ET BT 26.250 326.519 Td /F4 12.0 Tf [(Competing Interests)] TJ ET BT 26.250 306.565 Td /F1 9.8 Tf [(The authors have declared no competing interests.)] TJ ET BT 26.250 269.963 Td /F4 12.0 Tf [(Acknowledgements)] TJ ET BT 26.250 250.008 Td /F1 9.8 Tf [(The DuchenneConnect team extends its heartfelt gratitude to all the families who have provided information to the registry. )] TJ ET BT 26.250 238.104 Td /F1 9.8 Tf [(Sharing their knowledge and experience empowers families and enables them to directly impact research and advancements in )] TJ ET BT 26.250 226.199 Td /F1 9.8 Tf [(muscular dystrophy.)] TJ ET BT 26.250 197.096 Td /F4 12.0 Tf [(References)] TJ ET BT 26.250 169.642 Td /F1 9.8 Tf [(1.)] TJ ET BT 38.132 169.642 Td /F1 9.8 Tf [(Bushby K, Finkel F, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, )] TJ ET BT 26.250 157.737 Td /F1 9.8 Tf [(Shapiro F, Tomezsko J, Constantin C, for the DMD Care Considerations Working Group. Diagnosis and management of )] TJ ET BT 26.250 145.833 Td /F1 9.8 Tf [(Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurology 2010; )] TJ ET BT 26.250 133.928 Td /F1 9.8 Tf [(9: 77-93.)] TJ ET BT 26.250 114.523 Td /F1 9.8 Tf [(2.)] TJ ET BT 38.132 114.523 Td /F1 9.8 Tf [(Bushby K, Finkel F, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, )] TJ ET BT 26.250 102.618 Td /F1 9.8 Tf [(Shapiro F, Tomezsko J, Constantin C, for the DMD Care Considerations Working Group. Diagnosis and management of )] TJ ET BT 26.250 90.714 Td /F1 9.8 Tf [(Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurology 2010; 9: 177-189.)] TJ ET Q q 15.000 73.333 577.500 703.667 re W n 0.965 0.965 0.965 rg 26.250 747.845 555.000 29.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 747.845 m 581.250 747.845 l 581.250 748.595 l 26.250 748.595 l f q 35.250 759.095 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 767.476 Td /F4 9.8 Tf [(Fig. 12: Most frequently used therapies reported by participants)] TJ ET Q BT 26.250 730.821 Td /F1 9.8 Tf [(Calcium Coenzyme Q10, and vitamin D are among the most common supplements used \(17%, 13%, 21%, respectively\); see )] TJ ET BT 26.250 718.917 Td /F1 9.8 Tf [(table 4.)] TJ ET q 450.000 0 0 189.000 26.250 520.036 cm /I28 Do Q BT 26.250 503.012 Td /F4 9.8 Tf [(Table 4. Use of supplements, vitamins, other medications reported by participants \(participants can choose more than )] TJ ET BT 26.250 491.107 Td /F4 9.8 Tf [(one\).)] TJ ET BT 26.250 454.505 Td /F4 12.0 Tf [(Summary)] TJ ET BT 26.250 434.550 Td /F1 9.8 Tf [(The DuchenneConnect registry holds data about DBMD of interest to academic researchers, clinical investigators, and industry. )] TJ ET BT 26.250 422.646 Td /F1 9.8 Tf [(This includes family history, genetic mutation status, ambulation, corticosteroid use, pulmonary and cardiac function, and )] TJ ET BT 26.250 410.741 Td /F1 9.8 Tf [(supplement use. De-identified data is made available to academic and industry partners to advance our understanding of )] TJ ET BT 26.250 398.836 Td /F1 9.8 Tf [(natural history and facilitate the drug development and clinical trial process. Participants in the registry benefit from educational )] TJ ET BT 26.250 386.931 Td /F1 9.8 Tf [(materials and targeted contacts about relevant clinical trials. Looking forward, a new report of selected registry data will be )] TJ ET BT 26.250 375.027 Td /F1 9.8 Tf [(available biannually through the registry website. Bivariate and multivariate analyses of clinical interest are in process and will )] TJ ET BT 26.250 363.122 Td /F1 9.8 Tf [(be reported in the near future.)] TJ ET BT 26.250 326.519 Td /F4 12.0 Tf [(Competing Interests)] TJ ET BT 26.250 306.565 Td /F1 9.8 Tf [(The authors have declared no competing interests.)] TJ ET BT 26.250 269.963 Td /F4 12.0 Tf [(Acknowledgements)] TJ ET BT 26.250 250.008 Td /F1 9.8 Tf [(The DuchenneConnect team extends its heartfelt gratitude to all the families who have provided information to the registry. )] TJ ET BT 26.250 238.104 Td /F1 9.8 Tf [(Sharing their knowledge and experience empowers families and enables them to directly impact research and advancements in )] TJ ET BT 26.250 226.199 Td /F1 9.8 Tf [(muscular dystrophy.)] TJ ET BT 26.250 197.096 Td /F4 12.0 Tf [(References)] TJ ET BT 26.250 169.642 Td /F1 9.8 Tf [(1.)] TJ ET BT 38.132 169.642 Td /F1 9.8 Tf [(Bushby K, Finkel F, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, )] TJ ET BT 26.250 157.737 Td /F1 9.8 Tf [(Shapiro F, Tomezsko J, Constantin C, for the DMD Care Considerations Working Group. Diagnosis and management of )] TJ ET BT 26.250 145.833 Td /F1 9.8 Tf [(Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurology 2010; )] TJ ET BT 26.250 133.928 Td /F1 9.8 Tf [(9: 77-93.)] TJ ET BT 26.250 114.523 Td /F1 9.8 Tf [(2.)] TJ ET BT 38.132 114.523 Td /F1 9.8 Tf [(Bushby K, Finkel F, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, )] TJ ET BT 26.250 102.618 Td /F1 9.8 Tf [(Shapiro F, Tomezsko J, Constantin C, for the DMD Care Considerations Working Group. Diagnosis and management of )] TJ ET BT 26.250 90.714 Td /F1 9.8 Tf [(Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurology 2010; 9: 177-189.)] TJ ET Q q 15.000 73.333 577.500 703.667 re W n 0.965 0.965 0.965 rg 26.250 747.845 555.000 29.155 re f 0.267 0.267 0.267 rg 0.267 0.267 0.267 RG 26.250 747.845 m 581.250 747.845 l 581.250 748.595 l 26.250 748.595 l f q 35.250 759.095 537.000 17.905 re W n 0.271 0.267 0.267 rg BT 35.250 767.476 Td /F4 9.8 Tf [(Fig. 12: Most frequently used therapies reported by participants)] TJ ET Q BT 26.250 730.821 Td /F1 9.8 Tf [(Calcium Coenzyme Q10, and vitamin D are among the most common supplements used \(17%, 13%, 21%, respectively\); see )] TJ ET BT 26.250 718.917 Td /F1 9.8 Tf [(table 4.)] TJ ET q 450.000 0 0 189.000 26.250 520.036 cm /I28 Do Q BT 26.250 503.012 Td /F4 9.8 Tf [(Table 4. Use of supplements, vitamins, other medications reported by participants \(participants can choose more than )] TJ ET BT 26.250 491.107 Td /F4 9.8 Tf [(one\).)] TJ ET BT 26.250 454.505 Td /F4 12.0 Tf [(Summary)] TJ ET BT 26.250 434.550 Td /F1 9.8 Tf [(The DuchenneConnect registry holds data about DBMD of interest to academic researchers, clinical investigators, and industry. )] TJ ET BT 26.250 422.646 Td /F1 9.8 Tf [(This includes family history, genetic mutation status, ambulation, corticosteroid use, pulmonary and cardiac function, and )] TJ ET BT 26.250 410.741 Td /F1 9.8 Tf [(supplement use. De-identified data is made available to academic and industry partners to advance our understanding of )] TJ ET BT 26.250 398.836 Td /F1 9.8 Tf [(natural history and facilitate the drug development and clinical trial process. Participants in the registry benefit from educational )] TJ ET BT 26.250 386.931 Td /F1 9.8 Tf [(materials and targeted contacts about relevant clinical trials. Looking forward, a new report of selected registry data will be )] TJ ET BT 26.250 375.027 Td /F1 9.8 Tf [(available biannually through the registry website. Bivariate and multivariate analyses of clinical interest are in process and will )] TJ ET BT 26.250 363.122 Td /F1 9.8 Tf [(be reported in the near future.)] TJ ET BT 26.250 326.519 Td /F4 12.0 Tf [(Competing Interests)] TJ ET BT 26.250 306.565 Td /F1 9.8 Tf [(The authors have declared no competing interests.)] TJ ET BT 26.250 269.963 Td /F4 12.0 Tf [(Acknowledgements)] TJ ET BT 26.250 250.008 Td /F1 9.8 Tf [(The DuchenneConnect team extends its heartfelt gratitude to all the families who have provided information to the registry. )] TJ ET BT 26.250 238.104 Td /F1 9.8 Tf [(Sharing their knowledge and experience empowers families and enables them to directly impact research and advancements in )] TJ ET BT 26.250 226.199 Td /F1 9.8 Tf [(muscular dystrophy.)] TJ ET BT 26.250 197.096 Td /F4 12.0 Tf [(References)] TJ ET BT 26.250 169.642 Td /F1 9.8 Tf [(1.)] TJ ET BT 38.132 169.642 Td /F1 9.8 Tf [(Bushby K, Finkel F, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, )] TJ ET BT 26.250 157.737 Td /F1 9.8 Tf [(Shapiro F, Tomezsko J, Constantin C, for the DMD Care Considerations Working Group. Diagnosis and management of )] TJ ET BT 26.250 145.833 Td /F1 9.8 Tf [(Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurology 2010; )] TJ ET BT 26.250 133.928 Td /F1 9.8 Tf [(9: 77-93.)] TJ ET BT 26.250 114.523 Td /F1 9.8 Tf [(2.)] TJ ET BT 38.132 114.523 Td /F1 9.8 Tf [(Bushby K, Finkel F, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, )] TJ ET BT 26.250 102.618 Td /F1 9.8 Tf [(Shapiro F, Tomezsko J, Constantin C, for the DMD Care Considerations Working Group. Diagnosis and management of )] TJ ET BT 26.250 90.714 Td /F1 9.8 Tf [(Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurology 2010; 9: 177-189.)] TJ ET Q q 0.000 0.000 0.000 rg BT 291.710 19.825 Td /F1 11.0 Tf [(8)] TJ ET BT 25.000 19.825 Td /F1 11.0 Tf [(PLOS Currents Muscular Dystrophy)] TJ ET Q endstream endobj 198 0 obj << /Type /XObject /Subtype /Image /Width 600 /Height 252 /ColorSpace /DeviceRGB /Filter /DCTDecode /BitsPerComponent 8 /Length 48954>> stream JFIF;CREATOR: gd-jpeg v1.0 (using IJG JPEG v62), quality = 90 C     C   X" }!1AQa"q2#BR$3br %&'()*456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz w!1AQaq"2B #3Rbr $4%&'()*56789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz ?_=4K ZIs=RI+9@I8 &$8/P^*p(Ͻn0G?W?Dx{?>gޏp?<B?Q #+Uw4gޏp?<B?Q #+Uw>揪>_~3*Q^⫾{Gpȇ?Dx{?G?WzR@.iS_[?ˆ G(ЯgUH=:Rx\:vpCG?W?Dx{?w͂ph4[_[?G?W?Dx{?>g}W g #+U<B?W#7uG0ȃuˆ G(ЯgU0zA}n<G?W?Dx{?@ҍy(ЯgT<B?Wx9Ma0/?Dx{?*◠G0?vy(ЯgTˆ ^)_U"ˆ G(ЯgU1.iSu/?*G?WIz>D[?G?W?Dx{?@ϹuU"Q^*?Z7{}ngˆ K #+Uw3OA(ЯgTˆ ]}A(ЯgTˆ ]}ϽU"Dx{?G?WhϽU }ng #+U<B?W}zSL?À*Q^⫿9sIuǨ\6[?G?W?Dx{?wN)S?Dx{?G?WISG0/ #+U<B?W~r=#H#_U"À*| U\ޣTÿ5O!]6hn"xna*[*R2zvWkw ?`IsE|sSYX춤aԤ:~}b4NWR6m,R"}1*¿s_z8JW2>B 9\ʌ_Һ.߯<_BBR>S``¬ G*л~Kr?QWW .߯aB?̃;`]_*н~« G(2PE7n##8\UbOH%L/kúNgy> Y!4$xqk'w>#k6W~qklC v۴%ݲk(|+zoŽν =_gZMբX 88<+! xš[ȗx\F@$& @bzW Ȼ~c?jY%m[tH$NÖ j1rU'fʣNp>E3ZQ,-Cm ~Jؿ𯀯o3yaJgϷ͖湓ɪjDMac@:T?!|\gZڢ1  +T?{nvٕ|k<+h亵({Rm\q>@#X,5KkQ5x~_z <_oץӵYZxF)E?WU =_? 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