Mahjneh I, Vannelli G, Bushby K, Marconi G P
Department of Neurological Science, University of Florence, Italy.
Neuromuscul Disord. 1992;2(4):277-83. doi: 10.1016/0960-8966(92)90060-j.
This paper reports the results of a clinical, genetic and histopathological study of 19 patients belonging to a large inbred Palestinian family living in Um-El-Fahem, a town located in Israel, which is solely inhabited by Arabs. Their custom of marrying only among relatives has kept the genetic homogeneity of the families intact. There were ten cases of congenital muscular dystrophy (CMD) and nine cases of adult limb-girdle muscular dystrophy (LGMD) belonging to two generations of the same family. Both forms showed autosomal recessive inheritance. The patients with congenital muscular dystrophy had generalized muscular weakness and hypotonia at birth without arthrogryposis or CNS involvement and then had a relatively benign evolution with stabilization of the clinical picture at different ages and variable degree of severity. Muscle biopsy showed a dystrophic pattern. The other nine patients presented with the picture of adult limb-girdle muscular dystrophy but with an unusual tendency to the stabilization of symptoms.
本文报告了对居住在以色列乌姆-法赫姆镇的一个大型近亲巴勒斯坦家族中19名患者进行的临床、基因和组织病理学研究结果。该家族仅由阿拉伯人居住，他们近亲结婚的习俗使家族的基因同质性得以保持。在同一家庭的两代人中，有10例先天性肌营养不良（CMD）和9例成人肢带型肌营养不良（LGMD）。两种类型均显示常染色体隐性遗传。先天性肌营养不良患者出生时即有全身肌无力和肌张力减退，无关节挛缩或中枢神经系统受累，随后病情进展相对良性，临床表现于不同年龄稳定，严重程度各异。肌肉活检显示为营养不良模式。另外9名患者表现为成人肢带型肌营养不良，但症状有异常的稳定倾向。
