Tachi N, Tachi M, Sasaki K, Imamura S
Department of Pediatrics, Sapporo Medical College, Japan.
Pediatr Neurol. 1989 Jul-Aug;5(4):232-6. doi: 10.1016/0887-8994(89)90081-7.
We report the first Japanese patients, a mother and son, with early-onset, benign, autosomal-dominant, limb-girdle myopathy with contractures (Bethlem myopathy). The clinical features revealed predominantly proximal muscle weakness--especially in the limb-girdle muscles--joint contractures increasing with age, a benign course, and the absence of cardiac involvement. Muscle histology revealed nonspecific myopathy changes without dystrophic features. Electromyogram revealed a reduced interference pattern with a giant spike suggesting a neurogenic process.
我们报告了首例日本早发性、良性、常染色体显性遗传性伴有挛缩的肢带型肌病（贝斯勒姆肌病）患者，为一对母子。临床特征主要表现为近端肌无力，尤其是肢带肌，关节挛缩随年龄增长而加重，病程呈良性，且无心脏受累情况。肌肉组织学检查显示为无营养不良特征的非特异性肌病改变。肌电图显示干扰波减少并伴有巨大棘波，提示存在神经源性病变。
