Predicting Wheelchair Dependence in Facioscapulohumeral Muscular Dystrophy

A longitudinal analysis confirms predictors like smaller D4Z4 allele but suggests that female gender may be less protective than previously thought.

Although facioscapulohumeral muscular dystrophy (FSHD) is one of the more common forms of muscular dystrophy, we know little about factors that predict progression and functional outcomes. To determine features predictive of wheelchair use, researchers analyzed longitudinal registry data from annual questionnaires completed by 578 patients with genetically confirmed FSHD type 1.

The average follow-up was 9 years (maximum, 18 years). Most participants were white, middle-aged, and college-educated. The majority had 4 to 7 D4Z4 repeats (59%), followed by 8 to 10 repeats (21%), and 1 to 3 repeats (10%). Individuals with 1 to 3 D4Z4 repeats were younger at diagnosis and had a median age of 14 years at first wheelchair use, versus 46 years old wit…

Reviewing Authors

Leana Doherty, MD

Leana Doherty

Disclosures

Editorial BoardsNeurohospitalist Society; InterACTN (Annals of Clinical and Translational Neurology)

Leana Doherty

Disclosures

Editorial BoardsNeurohospitalist Society; InterACTN (Annals of Clinical and Translational Neurology)

Predicting Wheelchair Dependence in Facioscapulohumeral Muscular Dystrophy

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Reviewing Authors