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强直性肌营养不良症(DM)为神经系统遗传性疾病,发病率5.5/10万。近期收治1例,调查该家系4代有5人发病和可疑患者2人,对其中2例进行了临床、实验室及肌肉活检的病理和组化检查。 例1,女,47岁。8年前无诱因觉腰肌和四肢无力,进行性加重伴双手握拳后不易放松,逐渐丧失劳动能力。38岁绝经,幼子先天智力低下。外祖父和舅舅青年期消瘦死亡。两个妹妹有肌无力和强直的表现。查体:表情少,眼睑闭合无力,行走鸭步。双侧胸锁
Myotonic dystrophy (DM) is a neurological hereditary disease with a prevalence of 5.5 / 100,000. One case was recently treated and 4 cases of this family were investigated in 4 generations with 2 cases of suspicious patients and 2 cases of them. Pathological and histological examination of clinical, laboratory and muscle biopsies were performed in 2 cases. Example 1, female, 47 years old. 8 years ago, no incentive to feel psoas and limbs weakness, progressive increase with hands after the fist is not easy to relax, and gradually loss of ability to work. 38-year-old menopause, infant innate mental retardation. Grandfather and uncle died of weight loss during adolescence. Two sisters have muscle weakness and rigidity. Physical examination: less expression, eyelid closure weakness, walking duck step. Bilateral chest lock