An autosomal dominant, slowly progressive disorder with onset in childhood or young adulthood. Weakness involves facial (usually the initial manifestation), shoulder girdle, and proximal arm muscles and can result in atrophy of biceps, triceps, and scapular winging. Facial weakness results in inability to smile, whistle, or fully close the eyes. Foot drop and leg weakness may cause falls and progressive difficulty with ambulation.
Laboratory studies reveal normal or slightly elevated CK and usually myopathic features on EMG and muscle biopsy. Type 1 FSD is caused by deletions at chromosome 4q35 leading to toic expression of the DUX4 gene. Genetic testing is available for carrier detection and prenatal diagnosis.
Treatment: Facioscapulohumeral Dystrophy
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