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成年起病的近端脊肌萎缩症(SMA)临床少见,我科遇到一家系3例,家系谱显示可能为X—连锁隐性遗传,报告如下。 例1,先证者,男,57岁。12年前渐起双下肢无力。10年前感面部肉跳,有时饮水呛咳。近5年来双下肢无力逐渐加重,走路易跌跤,蹲下后站起困难,上楼梯吃力,渐双上肢也感无力。家族史见系谱图。体检:言语欠清晰,面部可见肌束颤动,双侧软腭上抬差,双侧咽反射消失,舌肌明显萎缩伴纤颤,四肢近端和双侧肩胛带肌及骨盆带肌轻—中度萎缩伴肌束颤动,下肢重于上肢,
Adult onset of proximal spinal muscular atrophy (SMA) is rare clinical, our department encountered a family of three cases, the pedigree showed possible X-linked recessive inheritance, the report is as follows. Example 1, proband, male, 57 years old. Twelve years ago, both lower limbs gradually weakness. 10 years ago, feeling facial flesh, and sometimes choking cough. Over the past 5 years, both lower extremity weakness gradually increased, walking easy fall, standing up after squatting difficulties, upstairs effort, gradually weak upper extremity. Family history see pedigree. Physical examination: ill-defined speech, fibrillation of the face, muscular dysfunction on the bilateral palate, disappearance of bilateral pharyngeal reflexes, conspicuous atrophy of the tongue with fibrillation, proximal and bilateral shoulder girdle muscles, and pelvic floor muscle mild-moderate Atrophy with muscle bundle fibrillation, lower extremity heavier than upper limbs,