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腓骨肌萎缩症又称遗传性神经性肌萎缩症或Charcot-Marie-Tooth 病。主要表现为双下肢远端对称性肌肉萎缩、无力,也可波及上肢,下肢的肌肉萎缩向近端扩延时,可呈典型的“鹤腿”样外观,感觉障碍一般轻微。部分病员有家族遗传性。本病临床并不少见,我们近3年共诊治20例,其中11例(分属5个家族)为家族遗传性。现将其中3个家族的系谱调查及其中10例成员的电生理检查所见报道分析如下。病例资料1.曹氏家族4例先证者曹某某(Ⅲ_1),男性,14岁。生后2—3岁才会走路,自幼双下肢无力,走路不稳,近1—2年来加重。体检:颅神经(-),眼底正常。双手骨间肌轻度萎缩,双下肢自大腿中段以下肌肉明显萎缩,肌力4级。双上肢腱反射减弱,双下肢膝、跟腱反射消失。双侧腕、踝以下痛觉较迟钝。双足呈马蹄内翻畸形。
Charcot-Marie-Tooth atrophy is also known as hereditary neuromuscular atrophy or Charcot-Marie-Tooth disease. Mainly for the lower extremity distal symmetrical muscle atrophy, weakness, but also spread to the upper extremities, lower extremity muscular atrophy to the proximal extension, can be a typical “Crane Leg” -like appearance, sensory disturbances are generally mild. Some patients have familial hereditary. The disease is not uncommon clinical, we have nearly 20 cases of diagnosis and treatment in the past 3 years, of which 11 cases (belonging to 5 families) for the family hereditary. The genealogical survey of 3 of these families and the electrophysiological examination of 10 of them are now reported as follows. Case data 1. Cao family 4 cases of proband Cao Moumou (Ⅲ_1), male, 14 years old. 2-3 years after birth to walk, since childhood, weakness in both lower extremities, walking instability, the past 1-2 years to increase. Physical examination: cranial nerve (-), fundus normal. My hands were slightly atrophy of the interosseous muscle, both lower extremities below the middle of the thigh muscle was significantly atrophy, muscle strength 4. Double upper limb tendon reflex decreased, both lower extremities knee, Achilles tendon reflex disappeared. Bilateral wrist, ankle pain more sluggish. Two feet were hoofed varus.