Leyten Q H, Gabreëls F J, Renier W O, ter Laak H J
Department of Neurology, Rijnstate Hospital, Arnhem, Netherlands.
Clin Neurol Neurosurg. 1996 Nov;98(4):267-80. doi: 10.1016/0303-8467(96)00043-1.
Congenital muscular dystrophy (CMD) is a condition in which there are already at birth, marked hypotonia, generalized muscle weakness and frequently multiple contractures. CMD has recently been classified into four categories: CMD I, the classical or "pure' CMD without severe impairment of intellectual development; CMD II, the Fukuyama type CMD with muscle and structural brain abnormalities; CMD III and IV with muscle, eye and brain abnormalities; the milder Finnish type CMD (CMD III) and the severe Walker-Warburg syndrome (CMD IV). Data of the literature concerning those different CMD types have been reviewed and are presented with emphasis on signs and symptoms, clinical course, laboratory, neurophysiological, radiological, morphological and genetic characteristics.
先天性肌营养不良（CMD）是一种在出生时就存在明显肌张力低下、全身肌无力且常伴有多处挛缩的病症。CMD最近被分为四类：CMD I，即经典型或“单纯型”CMD，智力发育无严重受损；CMD II，福山型CMD，伴有肌肉和脑部结构异常；CMD III和IV，伴有肌肉、眼睛和脑部异常；病情较轻的芬兰型CMD（CMD III）和严重的沃克 - 沃伯格综合征（CMD IV）。本文回顾了有关这些不同类型CMD的文献资料，并着重介绍了其体征和症状、临床病程、实验室检查、神经生理学、放射学、形态学和遗传学特征。
