远端型肌病大家系临床病理分析

CLINICAL AND PATHOLOGIC FEATURES OF A DISTAL MYOPATHY FAMILY

目的:报道一个远端型肌病大家系的临床表现及病理特点,分析其可能的遗传方式,为分子遗传学分析提供资料。方法:对这个大家系进行家系调查、遗传图谱及临床病理分析,以初步明确诊断。结果:先证者为29岁男性,13岁时出现双足马蹄内翻畸形、双下肢无力及双小腿肌肉进行性萎缩。此大家系五代共计117人,其中病人36人(男12人,女24人)。该家系中其他病人的症状与先证者类似。肌电图检查结果显示为肌源性损害,肌肉组织病理学结果显示为远端型肌营养不良症。结论:结合病人的家族史、临床表现和病理学改变特点,这个大家系中的病人可考虑为远端型肌病亚型中的Miyoshi肌病,其可能的遗传方式为常染色体隐性遗传。

Objective ：To report the clinical manifestations and pathological features in a Chinese family with distal myopathy. Methods： Family survey, genetic map, clinical manifestation and pathological features of biopsied muscle specimens were summarized and analysed, we could make the primary diagnosis. Results：The onset of disease in the proband was a 29 years old male. At the age of 13 he appeared clubfoot, progressive muscular atrophy and weakness in the lower limbs. We studied five generations which have 117 members, 36 of whom were affected （male 12, female 24 ）. The other affected members had similar symptoms. Electromyography demonstrated myopathic pattem. Muscle biopsy was peformed distal myopathy in the gastrocnemius muscle.. Conclusion：According to family history, clinical and myopathological features, miyoshi myopathy of subtype distal myopathies was considered with autosomal recessive inheritance.