第81例——老年男性，运动能力差、易跌倒55年，双下肢无力13年伴双上肢无力三年

The 81st case： a 58 years old male patient presented with later motor milestone, frequent falling for 55 years, weakness of lower limbs for 13 years, upper limbs weakness for 3 years

报道1例58岁男性患者，主因“自幼运动能力差，易跌倒55年，双下肢无力13年，伴双上肢无力3年”就诊。该患者以肌病为主要表现，合并轻微肝脏损害，心脏异常及脊柱侧弯，骨骼肌活体组织检查病理发现大量糖原沉积，基因检测发现AGL基因突变，最终诊断为糖原累积病Ⅲa型。

A 58-year-old man who presented with progressive proximal weakness and elevated serum creatine kinase levels was found to have type Ⅲ a glycogen storage disease. Except for a history of later motor milestone in childhood, he was healthy and lived a normal life. There was no hypoglycemia, hepatomegaly or growth retardation. Muscle weakness was not apparent until the fourth decade. Seoliosis and mild hypertrophy of cardiac ventricular septum were detected. Muscle biopsy was performed which revealed amount of glycogen depositing. A novel homogenous splicing mutation was found in AGL gene.