Related Experiment Video
Updated: May 9, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Risk of functional impairment in Facioscapulohumeral muscular dystrophy
Jeffrey M Statland1, Rabi Tawil
1Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, New York, 14642-0669, USA.
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.
Related Concept Videos
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Satellite Stem Cells and Muscular Dystrophy
Alterations in Muscle Tone ll
Alterations in Muscle Tone lll

