Progressive myopathy in trisomy 21.
A 23-year-old female patient with clinical manifestations typical of Down's syndrome progressively developed intensifying weakness of the proximal muscles from the age of 16 years. CK levels were distinctly elevated. Electromyography showed myogenic lesions and muscle biopsy a myopathic image with extensive fibre hypertrophy. Progressive sporadic myopathy in association with Down's syndrome has not been reported previously.
Mielke
U
U
Department of Neurology, University of the Saarland, Homburg/Saar, FRG.
Schimrigk
K
K
Edlinger
H
H
D000328:Adult; D004314:Down Syndrome / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000209:etiology / Q000473:pathology / Q000503:physiopathology*