一种罕见的运动神经元病亚型：散发性面肩肱型脊肌萎缩症一例并文献复习

目的 探讨面肩肱型脊肌萎缩症的临床表现和早期诊断.方法 对我院2006年收治的1例患者临床资料结合文献进行回顾性分析.结果 该患者为青年女性,隐袭起病,进行性进展.初期表现为选择性累及颜面、肩胛带肌群和上肢近端肌群,早期血浆肌肉酶谱正常,电生理检查和肌肉活检均提示神经源性损害.结论 面肩肱型脊肌萎缩症与肌营养不良性面肩肱型肌萎缩临床上极为类似,应早期进行电生理和肌肉活检检查协助确诊.

A rare subtype of Motor neuron disease:a case report of sporadic facioscapulohumeral spinal muscular atrophy and literature review

Objective To discuss the clinical feature and diagnosis of facioscapulohumeral spinal muscular atrophy.Methods The clinical data of a patient with facioscapulohumeral spinal muscular atrophy in 2006 was analyzed retrospectively.Results The patient developed muscular weakness invidiously in her twenty-six years old,and got worse progressively.The disease selectively affected muscles in face,should ergirdle and proximal arms in its early stage.Her serum muscle enzyme spectrum was normal.Electrophysiologic study and muscle biopsy showed lesions of neurogenic origin.Conclusion The clinical feature of facioscapulohumeral spinal muscular atrophy is much similar to FSH muscular dystrophy,a kind of myodystrophia.The disease can be diagnosed early by electrophysiologic study and muscle biopsy.