Emery-Dreifuss syndrome.
A young adult male is described with muscular dystrophy of probable X-linked recessive inheritance. An onset of muscle weakness in late adolescence was preceded by contractures of the neck and elbows dating back to childhood. The distribution of muscle weakness was proximal in the upper limbs and both proximal and distal in the lower. The mixed pattern of muscle involvement in the legs favours the view that cases of Emery-Dreifuss muscular dystrophy with proximal weakness in both the upper and lower limbs and X-linked scapuloperoneal muscular dystrophy represent the same disorder. A muscle biopsy in the present case showed unique appearances.
Petty
R K
RK
Thomas
P K
PK
Landon
D N
DN
D000328:Adult; D001706:Biopsy; D003286:Contracture / Q000235:genetics*; D004576:Electromyography; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014960:X Chromosome