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Scapulo-peroneal muscular dystrophy

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Scapulo-peroneal muscular dystrophy is characterised by weakness of proximal upper limb and distal lower limb muscles. Mild forms exhibit an autosomal dominant pattern of inheritance. The more aggressive form is inherited in an X-linked manner.

Onset is in adult life. The lower limbs are affected first. Foot-drop develops due to weakening of the anterior tibial and peroneal muscle groups. Next, there is weakness in the scapular muscles, deltoid, biceps and triceps. Cardiac muscle may be affected later.

Investigations reveal a raised creatine phosphatase and myopathic changes in the electromyelogram. An ECG may show arrhythmias. Muscle biopsy shows non-specific myopathic features.

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