Emery-Dreifuss Muscular Dystrophy


a.k.a. Humeroperoneal dystrophy


X linked recessive

Clinical features:

Weakness in biceps, triceps, distal leg muscles
Early contractures
Rigid spine
Findings on investigations:
Cardiac conduction block

Muscle biopsy:

Dystrophic changes similar to Duchenne muscular dystrophy
Immunohistochemistry: absent Emerin is diagnostic.

Investigations to consider:

Monitor cardiac function: conduction abnormalities


Consider insertion of pacemaker
Physical therapy to maintain mobility

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