伴有特殊体征的遗传性肩肱型脊髓性肌萎缩  

Autosomal dominant scapulohumeral spinal muscular atrophy with ophthalmoplegia, dropped head syndrome and sensorineural deafness.

作　　者：高唯一[1] 袁云[1] 陈清棠[1] 

机构地区：[1]北京医科大学第一医院神经内科，100034

出　　处：《中国神经精神疾病杂志》2000年第6期337-339,共3页Chinese Journal of Nervous and Mental Diseases

摘　　要：目的　报道一个进展缓慢的显性遗传性肩肱型脊髓性肌萎缩家系 ,探讨其临床特点和诊断规律。方法　对一个家系三代进行调查 ,对 1例先证者进行详细的临床和肌电图检查 ,及右肱二头肌活检标本进行组织学、组织化学和超微结构检查。结果　本家系三代人每代均有发病者 ,共有 4人发病 ,发病年龄在 10～ 3 0岁左右 ,以缓慢进行性的颈肩带及双上肢肌肉萎缩和无力为特点 ,仅 1例出现舌肌束颤 ,均伴有眼外肌麻痹、抬头困难和神经性耳聋 ,1例伴有双眼白内障。对其中 1例病人行肌电图和肌肉活检结果显示为神经原性损害。结论　此例的临床、电生理和肌肉病理检查符合显性遗传性肩肱型脊髓性肌萎缩的诊断 ,合并出现眼外肌麻痹和听神经损害是此家族的临床特点。Objective Scapulohumeral type spinal muscular atrophy is a rare disorder. We report a new family with ophthalmoplegia, dropped head syndrome and sensorineural deafness.Methods Three generations in the family were studied. Detailed examinations including electromyography, muscle biopsy and enzymology were performed in the proband.Results Four members in the family were affected. The inheritance is autosomal dominant. Onset of the disease was between 10～30 years old. They showed slowly progressive weakness and atrophy in scapulohumeral muscles, ophthalmoplegia, dropped head syndrome and sensorineural deafness. One of them also suffered from bilateral cataract. There was only one case with fasciculations. Electromyography and muscle biopsy indicated neurogenic muscle atrophy. Conclusions This family was similar to others described in the literature and designated as autosomal dominant scapulohumeral type of spinal muscular atrophy. The unique association with ophthalmoplegic signs and sensorineural deafness can be considered either as a variant form of the disease or as a separate entity. Facioscapulohumeral type of spinal muscular atrophy, Limb girdle muscular dystrophy, mitochondrial myopathy and polymyositis should be considered in differential diagnosis.

关 键 词：肩肱型脊髓性肌萎缩 运动神经元病 肌肉活检 

分 类 号：R746.4[医药卫生—神经病学与精神病学] R744.8[医药卫生—临床医学]