Synonyms:
a.k.a. Humeroperoneal dystrophy
Genetics:
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
Treatment:
Consider insertion of pacemaker
Physical therapy to maintain mobility