21三体综合征中的进行性肌病

Progressive myopathy in trisomy 21.

作者信息

Mielke U, Schimrigk K, Edlinger H

机构信息

Department of Neurology, University of the Saarland, Homburg/Saar, FRG.

出版信息

Neuropediatrics. 1988 Aug;19(3):132-4. doi: 10.1055/s-2008-1052416.

DOI:10.1055/s-2008-1052416

PMID:2975770

Abstract

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.

摘要

一名23岁女性患者，临床表现典型的唐氏综合征，自16岁起近端肌肉无力逐渐加重。肌酸激酶（CK）水平明显升高。肌电图显示肌源性损害，肌肉活检显示肌病图像伴有广泛的纤维肥大。此前尚未报道过与唐氏综合征相关的进行性散发性肌病。