慢性x连锁隐性球脊髓肌萎缩症(Kennedy-Stefanis型)。关于一个案例]。

La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris Pub Date : 1984-03-29

G Serratrice, P Guastalla

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引用次数: 0

摘要

一个新的观察慢性x连锁隐性脊髓肌萎缩症报道。本系列病例符合Kennedy-Stefanis慢性脊髓肌萎缩症的描述，其主要特征是:性别连锁隐性遗传，虚弱和近端占优势的球脊髓肌萎缩，面舌束状，反射性松弛，半数病例为男性乳房发育，进展非常缓慢，神经源性肌电图显示神经传导速度正常，神经源性肌肉活检。

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[Chronic X-linked recessive bulbospinal amyotrophy (Kennedy-Stefanis type). Apropos of a case].

A new observation of chronic X-linked recessive spinal amyotrophy is reported. This series of cases fits the description of Kennedy-Stefanis chronic spinal amyotrophy, whose main characteristics are: sex-linked recessive inheritance, weakness and bulbo-spinal amyotrophy with proximal predominance, facio-lingual fasciculations, areflexia, gynecomastia in half of cases, very slowly progressive course, neurogenic EMG with normal nerve conduction velocities, and neurogenic muscle biopsy.

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La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris

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