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腓骨肌萎缩(PMA)可合并其它的神经变性疾病,包括家族性痉挛性截瘫、视神经萎缩和帕金森氏综合征。作者报告1例PMA患者合并帕金森氏综合征、睑下垂和先天性斜视。先证者,女,62岁因全身活动减慢伴明显步态损害就诊。40岁后感异常疲劳、无力和行走困难,频繁跌倒,偶有晕厥发作。患者自幼会聚性斜视,双臂疼痛20年,6年前行右腕管综合征手术。查体见双睑下垂,瞬目减少,面具脸,会聚性斜视。颈及四肢齿轮样强直,站立不稳,俯倾姿态,膝以下及前臂远端1/3肌肉明显萎缩,四肢远端中度无力,深反射消失。深浅感觉损害呈手套袜套样分布,有直立性低血压、尿失禁和便秘。血化学常规、ECG、EEG和脑MRI正常,神经
Charcot-Marie-Tooth Atrophy (PMA) can be combined with other neurodegenerative diseases, including familial spastic paraplegia, optic atrophy and Parkinson’s syndrome. The authors report a case of PMA with Parkinson’s disease, ptosis and congenital strabismus. The proband, female, 62 years old due to slowing of systemic activity with obvious gait damage treatment. 40-year-old sense of abnormal fatigue, weakness and difficulty walking, frequent falls, occasional fainting. Patients with childhood convergence strabismus, pain in his arms 20 years, 6 years ago, right carpal tunnel syndrome surgery. See double eyelid ptosis, blinking, face mask, convergence strabismus. Neck and limbs gear-like ankylosis, standing instability, prone attitude, below the knee and distal 1/3 of the muscles were significantly atrophy, distal limbs moderate weakness, deep reflex disappeared. Slight sensation was gloved sock-like distribution, orthostatic hypotension, urinary incontinence and constipation. Blood chemistry routine, ECG, EEG and brain MRI normal, nerve