19 February 2020

Saskia Lassche et al., theme Disorders of movement, recently showed in Neurology that remaining muscle fibers in Facioscapulohumeral muscular dystrophy (FSHD) patients  have normal muscle strength, even in severely affected muscles.

FSHD is one of the most common muscle disorders in adults. It is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. A toxic protein, DUX4, is produced in the muscles of patients with FSHD. This causes muscle damage, resulting in muscle weakness due to a reduced amount of muscle tissue. 

This finding is especially important because it means that muscle fiber function can be preserved even if the surrounding muscle is damaged. If potential future treatments are able to prevent or reduce DUX4-induced muscle damage, the remaining muscle fibers should be able to generate normal amounts of strength. It is not known whether DUX4 also influences the contractile strength of the remaining muscle fibers.


 

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