Ben Hamida M, Hentati F, Chebbi N, Mhiri C, Ayed K, Hamzaoui K
Institut National de Neurologie, Tunis, Tunisie.
Rev Neurol (Paris). 1988;144(11):737-47.
The results of a clinical, pathological, genetic and epidemiological study of 101 cases of chronic proximal spinal muscular atrophy are reported. Ages at onset allow to distinguish clearly an infantile, a juvenile and an adult groups. The infantile and juvenile groups comprising 93 p. 100 of the patients, were characterized by onset before the age of 20 (54 p. 100 before age 5) and by a large intra- and interfamilial clinical variability. The severity of the disease was unrelated either to sex or the sporadic or familial nature of the disease. On the other hand it was closely related to age at onset and to the pathology of the muscles. There seems to be no genetic heterogeneity in this group. Inheritance is of the autosomal recessive type in the great majority of cases. Certain sporadic cases may be due to a dominant mutation or to a phenocopy, as suggested by segregation analysis. The adult group, comprising 6 patients, included 4 cases of autosomal dominant inheritance without consanguinity of the parents, and one case of dominant inheritance.
报告了对101例慢性近端脊髓性肌萎缩症患者进行临床、病理、遗传和流行病学研究的结果。发病年龄有助于明确区分婴儿型、青少年型和成人型。婴儿型和青少年型组占患者的93%，其特点是发病年龄在20岁之前（54%在5岁之前），且家族内和家族间临床差异较大。疾病的严重程度与性别以及疾病的散发或家族性质均无关。另一方面，它与发病年龄和肌肉病理密切相关。该组似乎不存在遗传异质性。在绝大多数病例中，遗传方式为常染色体隐性遗传。某些散发病例可能是由于显性突变或表型模拟，分离分析提示了这一点。成人型组包括6例患者，其中4例为常染色体显性遗传且父母无血缘关系，1例为显性遗传。
