Silvère van der Maarel, PhD, Prof.
Autosomal dominant Facioscapulohumeral Muscular Dystrophy (FSHD) is the second most common myopathy in adults. FSHD is mainly characterized by progressive and often asymmetric weakness and wasting of the facial, shoulder and upper arm muscles. During disease progression, also other muscles may become affected. Frequently reported non-muscular symptoms include sensorineural deafness and retinovasculopathy, although these symptoms often go unnoticed. Genetically, FSHD is associated with a contraction of the D4Z4 macrosatellite repeat in the chromosome 4q subtelomere in the large majority of patients. In healthy individuals this polymorphic repeat varies between 11-100 D4Z4 units, each unit being 3,3kb in size. Patients with FSHD typically carry one allele with a D4Z4 repeat of 1-10 units.
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