Risk of functional impairment in Facioscapulohumeral muscular dystrophy

ABSTRACT Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscular dystrophies. Nevertheless, little is known about the risk of developing functional impairment. Here we determine the 6‐year risk of functional impairment in FSHD. Methods: A retrospective cohor...

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Published inMuscle & nerve Vol. 49; no. 4; pp. 520 - 527
Main Authors Statland, Jeffrey M., Tawil, Rabi
Format Journal Article
LanguageEnglish
Published United States Blackwell Publishing Ltd 01.04.2014
Wiley Subscription Services, Inc
Subjects
Adult
Aged
Cohort Studies
Confidence intervals
D4Z4 contraction
Facioscapulohumeral dystrophy
Female
Functional impairment
Humans
Male
Medical research
Middle Aged
Muscular dystrophy
Muscular Dystrophy, Facioscapulohumeral - diagnosis
Muscular Dystrophy, Facioscapulohumeral - epidemiology
Muscular Dystrophy, Facioscapulohumeral - physiopathology
Neuromuscular disorders
Registries
Retrospective Studies
Risk Factors
Surveys and Questionnaires
Wheelchairs - statistics & numerical data
Facioscapulohumeral dystrophy
D4Z4 contraction
Neuromuscular disorders
Functional impairment
Muscular dystrophy
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Summary:ABSTRACT Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscular dystrophies. Nevertheless, little is known about the risk of developing functional impairment. Here we determine the 6‐year risk of functional impairment in FSHD. Methods: A retrospective cohort of 313 genetically confirmed, clinically affected FSHD participants in a United States registry between January 2002 and June 2011. Our main outcome was wheelchair (WC) use. Results: The 6‐year risk of WC use was 24.0% (95% confidence interval 18.6–29.3). The distribution of WC risk was bimodal, with a peak in the second decade associated with large D4Z4 contractions, followed by an age‐related increase in risk. Other functional categories showed moderate risk. Prevalence of hearing aid use and difficulty pronouncing words was increased in large D4Z4 contractions. Conclusions: The 6‐year risk of functional impairment in FSHD is moderate, and early WC use is associated with large D4Z4 contractions. Muscle Nerve 49:520–527, 2014
Bibliography:ark:/67375/WNG-VTN0476N-N
ArticleID:MUS23949
istex:47D363D91BA277235FCD059FD4B6B315CAABD176
Dr. Statland's work on this project was supported by the Muscular Dystrophy Association's Clinical Research Training Grant. We thank the FSHD Registry participants and their families for their commitment and generosity; they are the impetus for this study. We would also like to thank the Registry staff for their help in performing this study, in particular Elizabeth Luebbe and Bill Martens. Dr. Statland received salary support from the Muscular Dystrophy Association Clinical Research Training Grant, and is a consultant for Cytokinetics. Dr. Tawil is a co‐investigator, National Registry for FSHD patients and family members, and is a consultant for Cytokinetics. The National Registry of FSHD Patients and Family Members has been funded in whole or in part by the National Institutes of Health (grant # U54‐NS048843 and contracts #N01‐AR‐5‐2274 and #N01‐AR‐0‐2250).
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ISSN:0148-639X
1097-4598
DOI:10.1002/mus.23949