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腓肌萎缩症又称CHARCOT—MARIE—TOOTH氏病或遗传性神经性肌萎缩症,是一周围神经系统的遗传病。主要累及腓侧肌肉及上、下肢的远端肌肉。属常染色体显性、隐性或性连隐性遗传。现报告1989年所遇资料较全的一个家族2例。病例报告例1 先证者,男性,20岁,1989年10月6日入院。于3年前出现行走时足踝抬举不灵活,尚不妨碍劳动。2年前开始感双腿乏力,逐渐明显,双下肢变细,跑步困难。1年来抬腿迈步不灵活,登楼梯吃力。并感到双臂双手抬拿重物时无力。双下肢伴有麻木感。查体:言语流利,智能正常,脊柱四肢无畸形。下肢腓肠肌、胫前肌显著萎缩,小腿变细呈“鹤腿”状。
Muscular atrophy, also known as CHARCOT-MARIE-TOOTH disease or hereditary neuromuscular atrophy, is a peripheral nervous system genetic disease. Mainly involved in the fibular side of the muscles and the lower extremity of the distal muscles. Is autosomal dominant, recessive or sexual even hidden genetic. Two cases of a family with more complete information in 1989 are reported. Case Report Example 1 Probate, male, 20 years old, admitted to hospital on October 6, 1989. Feet raised ankle when walking 3 years ago were inflexible and did not interfere with work. 2 years ago began to feel weak legs, gradually obvious, thinning of both lower extremities, running difficult. 1 year lift the leg is not flexible, climbing the stairs struggling. And feel both hands lift heavy objects when unable. Lower limbs associated with numbness. Physical examination: fluent speech, intelligence normal spine limbs without deformity. Lower limb gastrocnemius, tibialis anterior muscle atrophy, calf thinning was “crane legs” shape.