Population studies of rare disorders, such as Duchenne and Becker muscular dystrophies (dystrophinopathies), are challenging due to diagnostic delay and heterogeneity in disorder milestones. To address these challenges, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) in 2002 in the United States. From 2002 to 2012, MD STARnet longitudinally tracked the prevalence, clinical, and health care outcomes of 1054 individuals born from 1982 to 2011 with pediatric-onset dystrophinopathy through medical record abstraction and survey data collection. This article summarizes 31 MD STARnet peer-reviewed publications. MD STARnet provided the first population-based prevalence estimates of childhood-onset dystrophinopathy in the United States. Additional publications provided insights into diagnostic delay, dystrophinopathy-specific growth charts, and health services use. Ongoing population-based surveillance continually improves our understanding of clinical and diagnostic outcomes of rare disorders.
EmeryAE. The muscular dystrophies. Lancet. 2002;359(9307):687–695.
2.
GoochCLPrachtEBorensteinAR. The burden of neurological disease in the United States: a summary report and call to action. Ann Neurol. 2017;81(4):479–484.
Cooperative International Neuromuscular Research Group (CINRG). http://www.cinrgresearch.org/. Published 2018. Accessed June 26, 2018.
5.
Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases. http://www.treat-nmd.eu/. Published 2018. Accessed June 26, 2018.
6.
Canadian Neuromuscular Disease Registry (CNDR). https://cndr.org/. Published 2018. Accessed June 26, 2018.
7.
MillerLARomittiPACunniffC. The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. Birth Defects Res A Clin Mol Teratol. 2006;76(11):793–797.
8.
RomittiPAZhuYPuzhankaraS. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015;135(3):513–521.
9.
MatthewsDJJamesKAMillerLA. Use of corticosteroids in a population-based cohort of boys with Duchenne and Becker muscular dystrophy. J Child Neurol. 2010;25(11):1319–1324.
10.
CunniffCAndrewsJMeaneyFJ. Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol. 2009;24(4):425–430.
11.
CiafaloniEFoxDJPandyaS. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009;155(3):380–385.
12.
Centers for Disease Control and Prevention. Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years—four states, 2007. MMWR Morb Mortal Wkly Rep. 2009;58(40):1119–1122.
13.
HoltzerCMeaneyFJAndrewsJ. Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy. Genet Med. 2011;13(11):942–947.
14.
NabukeraSKRomittiPACampbellKA. Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy. J Child Neurol. 2012;27(6):734–740.
15.
NabukeraSKRomittiPACaspersKM. Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy. Am J Med Genet A. 2013;161(1):70–75.
16.
BarberBJAndrewsJGLuZ. Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy. J Pediatr. 2013;163(4):1080–1084.e1.
17.
WestNAYangMLWeitzenkampDA. Patterns of growth in ambulatory males with Duchenne muscular dystrophy. J Pediatr. 2013;163(6):1759–1763.e1.
18.
PettygroveSLuZAndrewsJG. Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies. Muscle Nerve. 2014;49(6):814–821.
19.
ZhuYRomittiPAConwayKM. Complementary and alternative medicine for Duchenne and Becker muscular dystrophies: characteristics of users and caregivers. Pediatr Neurol. 2014;51(1):71–77.
20.
ImbornoniLPriceETAndrewsJMeaneyFJCiafaloniECunniffC. Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy. Am J Med Genet A. 2014;164(11):2769–2774.
21.
FoxDJKumarAWestNA. Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001. J Child Neurol. 2015;30(1):21–26.
22.
ZhuYRomittiPACaspers ConwayKM. Genitourinary health in a population-based cohort of males with Duchenne and Becker muscular dystrophies. Muscle Nerve. 2015;52(1):22–27.
23.
Caspers ConwayKMathewsKDParamsothyP. Neurobehavioral concerns among males with dystrophinopathy using population-based surveillance data from the muscular dystrophy surveillance, tracking, and research network. J Dev Behav Pediatr. 2015;36(6):455–463.
24.
KimSCampbellKAFoxDJMatthewsDJValdezR, MD STARnet. Corticosteroid treatments in males with Duchenne muscular dystrophy: treatment duration and time to loss of ambulation. J Child Neurol. 2015;30(10):1275–1280.
25.
PandyaSKCampbellKAAndrewsJGMeaneyFJCiafaloniE. Health services received by individuals with Duchenne/Becker muscular dystrophy. Muscle Nerve. 2016;53(2):191–197.
26.
PandyaSAndrewsJCampbellKMeaneyFJ. Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy. J Pediatr Rehabil Med. 2016;9(1):45–53.
27.
CiafaloniEKumarALiuK. Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet. J Pediatr Rehabil Med. 2016;9(1):5–11.
28.
LambMMWestNAOuyangL. Corticosteroid treatment and growth patterns in ambulatory males with Duchenne muscular dystrophy. J Pediatr. 2016;173:207–213.e3.
29.
AndrewsJGSoimAPandyaS. Respiratory care received by individuals with Duchenne muscular dystrophy from 2000 to 2011. Respir Care. 2016;61(10):1349–1359.
30.
SoimALambMCampbellK. A cross-sectional study of school experiences of boys with Duchenne and Becker muscular dystrophy. Phys Disabil Educ Relat Serv. 2016;35(2):1.
31.
FrishmanNConwayKCAndrewsJ. Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources. Health Qual Life Outcomes. 2017;15(1):33.
32.
LatimerRStreetNConwayKC. Secondary conditions among males with Duchenne or Becker muscular dystrophy. J Child Neurol. 2017;32(7):663–670.
33.
ConwayKMCiafaloniEMatthewsD. Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies. Disabil Rehabil. 2018;40:1773–1780.
34.
KimSZhuYRomittiPA. Associations between timing of corticosteroid treatment initiation and clinical outcomes in Duchenne muscular dystrophy. Neuromuscul Disord. 2017;27(8):730–737.
35.
GissyJJJohnsonTFoxDJ. Delayed onset of ambulation in boys with Duchenne muscular dystrophy: potential use as an endpoint in clinical trials. Neuromuscul Disord. 2017;27(10):905–910.
