Fenichel G M
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee.
Neurol Clin. 1988 Aug;6(3):519-28.
The congenital muscular dystrophies are a group of genetic myopathies characterized by hypotonia, weakness, or arthrogryposis at birth. Classification is inadequate and based entirely upon phenotypic expression, because a genetic marker has not been identified in any of these disorders. Some have only muscle disease, whereas others have cerebral disturbances (hypomyelination and/or disturbances of neuronal migration) as well. Ocular malformation may also be present. The outcome is variable, and it is difficult to provide an accurate prognosis soon after birth.
先天性肌营养不良是一组遗传性肌病,其特征为出生时即存在肌张力减退、肌无力或关节挛缩。由于尚未在这些疾病中发现任何遗传标志物,分类并不完善,完全基于表型表现。有些仅累及肌肉疾病,而其他一些还伴有脑部病变(髓鞘形成不足和/或神经元迁移障碍)。也可能存在眼部畸形。预后因人而异,出生后不久很难给出准确的预后判断。