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facioscapulohumeral dystrophy

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Facioscapulohumeral dystrophy is a muscular dystrophy with an autosomal dominant inheritance. It is very variable in extent and severity, even within a given family. Creatinine phosphokinase is often normal.

Characteristic features include:

  • weakness:
    • presents in the the second or third decade
    • predominantly facial, periscapular, humeral
    • the facial appearance is characteristic with an unlined face, pouting lips and transverse smile
    • on abduction of the arms there is a characteristic elevation of the scapulae

  • muscle hypertrophy is rare and contractures and deformity are unusual

  • the severity of the illness is related to the age of onset:
    • the earlier the onset, the more severe the illness
    • there is a normal lifespan

  • fetal myoglobin and sarcolemma are increased; adult myoglobin is reduced

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