CAJ | 학술논문

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。
목적탐토면견굉형척기위축증적림상표현화조기진단。방법대아원2006년수치적1례환자림상자료결합문헌진행회고성분석。결과해환자위청년녀성，은습기병，진행성진전。초기표현위선택성루급안면、견갑대기군화상지근단기군，조기혈장기육매보정상，전생리검사화기육활검균제시신경원성손해。결론면견굉형척기위축증여기영양불량성면견굉형기위축림상상겁위유사，응조기진행전생리화기육활검검사협조학진。
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 .