成人型脊髓性肌萎缩─附1例临床及病理报告

成人型脊髓性肌萎缩，是一组较少见、以下级运动神经元变性的疾病。发病年龄较晚，多在３０岁以后，为性连隐性遗传，主要表现为近端肌萎缩伴球麻痹。可见广泛的束震颤，无锥体束征及感觉障碍。病理上病变仅在脊髓前角及脑干运动神经核，故认为是不同于肌萎缩侧索硬化的一组独立的疾病。现将我院经尸检确诊的１例报告如下，并结合文献进行简单地讨论。

A case report of spinal muscular atrophy (adult type) with clinical and pathological examinations

Adult spinal muscular atrophy is a rare disease and characterized clinically by lower motor neuron paresis of limb and trunk muscles accompanied by bulbar paralysis and extensive fasciculation without any sensory changes and pyramidal signs. The onset usually begins over 30 years old, the majority are of sex-linked recessive inheritance, pathologically degeneration or loss of anterior horn cells in the spinal cord and motor neurons of brain stem are present, and sometimes the lesions are limited to lower motor neurons, so this is considered to be a disease entity distinct from amyotrophic lateral sclerosis. We reported a case of spinal muscular atrophy of adult type confirmed post-mortem, and discussed the disease after reviewing the literature.