Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disease associated with progressive weakness in muscles of the face, shoulder-girdle and arms. FSHD arises from an epigenetic defect that ultimately causes aberrant expression of the transcription factor DUX4 in skeletal muscles. DUX4 is toxic to muscle and numerous non-muscle cell types, and causes differentiation defects, muscle atrophy, oxidative stress and cell death. However, FSHD symptoms are often variable from person to person, and there may be also variability in severity of symptoms, rate of progression and age at onset, even in families with several affected relatives.

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