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目的分析脊髓延髓肌肉萎缩症(SBMA)的临床表现和辅助检查特点,并作基因诊断。方法收集5例疑似 SBMA 患者的详细病史、体格检查、血液生化、肌电图和肌肉病理等资料,用PCR 方法测定雄性激素受体(AR)基因的 CAG 重复序列拷贝数。结果 SBMA 主要临床表现是四肢肌肉萎缩、无力和肢体震颤,舌肌萎缩和构音障碍;部分患者出现内分泌症状和肌酸激酶(CK)增高。肌电图可见失神经性运动电位。肌肉病理为神经性损害。患者 AR 基因 CAG 重复序列的重复次数均在50次以上,而正常对照是19～24次。结论 SBMA 为中年男性,潜隐起病,主要表现脊髓和延髓肌肉的萎缩和无力,AR 基因 CAG 重复序列的测定有助本病的确诊。
Objective To analyze the clinical manifestations and auxiliary examinations of spinal bulbar muscular dystrophy (SBMA) and to make genetic diagnosis. Methods The data of 5 patients with suspected SBMA were collected, including the detailed history, physical examination, blood biochemistry, electromyography and muscle pathology. The CAG repeat copy number of androgen receptor (AR) gene was determined by PCR. Results The main clinical manifestations of SBMA were muscle atrophy, weakness and limb tremor, tongue muscle atrophy and dysarthria. Some patients had endocrine symptoms and increased creatine kinase (CK). Electromyogram shows denervated motor potential. Muscle pathology is neurological damage. Patients with AR gene CAG repeat repeats were more than 50 times, while the normal control is 19 to 24 times. Conclusion SBMA is a middle-aged male with latent latent onset. The main manifestation is atrophy and weakness of spinal cord and bulbar muscle. The determination of CAG repeat sequence of AR gene can help confirm the diagnosis of this disease.