Lenard H G
Department of Paediatrics, Heinrich-Heine-University, Düsseldorf, Germany.
Acta Paediatr Jpn. 1991 Apr;33(2):256-60. doi: 10.1111/j.1442-200x.1991.tb01551.x.
The classification of congenital muscular dystrophies (CMD), based on perceived clinical and morphological similarities or differences, is controversial. CMD without cerebral involvement has sometimes been divided into a mild and a severe form. This distinction is, however, arbitrary and not uncontested. Whether Ullrich's disease, formerly called atonic-sclerotic dystrophy, is a disease entity and if so, whether it is a primary muscle disorder, is uncertain. CMD without cerebral involvement is inherited in an autosomal recessive fashion in the great majority of cases. CMDs with cerebral involvement are usually classified into at least three forms: the Fukuyama type of CMD, occurring almost exclusively in Japanese patients; CMD with hypomyelination, sometimes also called the occidental type of cerebromuscular dystrophy; and Walker-Warburg syndrome. Muscle-eye-brain disease, described in a number of Finnish patients, may or may not belong in this last category. In CMD with cerebral involvement inheritance is also autosomal recessive. It is possible that single sporadic cases are phenocopies due to infectious or other exogenous causes. Reports of clinical and morphological findings from an increasing number of patients show a high degree of variability within and, on the other hand, certain similarities between the forms of CMD with cerebral involvement. In addition, neuroradiological changes are also found with increasing frequency in CMD patients without clinical neuropsychological abnormalities. It is not unreasonable to speculate that molecular genetic techniques will reveal in the near future a variable defect in one gene locus or defects in a few gene loci as the cause of the various clinical forms of CMDs.
基于所观察到的临床和形态学上的相似性或差异对先天性肌营养不良（CMD）进行分类存在争议。无脑受累的CMD有时被分为轻度和重度两种形式。然而，这种区分是随意的，且并非毫无争议。以前被称为张力缺乏性硬化性肌营养不良的乌尔曼病是否为一种独立的疾病实体，如果是，它是否为原发性肌肉疾病尚不确定。绝大多数无脑受累的CMD以常染色体隐性方式遗传。伴有脑受累的CMD通常至少分为三种形式：福山型CMD，几乎仅见于日本患者；伴有髓鞘形成不足的CMD，有时也称为西方型脑肌营养不良；以及沃克 - 沃伯格综合征。在一些芬兰患者中描述的肌肉 - 眼 - 脑疾病可能属于或不属于最后这一类别。伴有脑受累的CMD的遗传方式也是常染色体隐性。有可能个别散发病例是由感染或其他外源性原因导致的表型模拟。越来越多患者的临床和形态学发现报告显示，伴有脑受累的CMD各形式之间一方面存在高度变异性，另一方面也存在某些相似性。此外，在无临床神经心理学异常的CMD患者中，神经放射学改变的发现频率也在增加。推测分子遗传学技术在不久的将来会揭示一个基因位点的可变缺陷或几个基因位点的缺陷是各种CMD临床形式的病因，这并非不合理。
