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目的 探讨远端型肌病的临床表现及肌肉病理特点。方法 对71例远端型肌病患者进行回顾性分析。结果 71例患者中,Nonaka型26例,呈散发或常染色体隐性遗传,多以胫前肌无力为首发症状,肌肉坏死较轻,镶边空泡(rimmedvacuole,RV)多见,可见管状细丝包涵体;Miyoshi型38例,呈散发或常染色体隐性遗传,多以腓肠肌力弱为首发症状,肌肉变性坏死严重,RV少见;TMD型2例,均为散发病例,病变主要局限于胫前肌,病情进展较慢,有肌肉变性坏死,可见RV;Welander型4例,呈散发或常染色体显性遗传,以手指、腕部无力为首发症状,可波及下肢远端,轻度肌肉变性坏死,偶可见RV;OPDM型1例,呈常染色体显性遗传,表现为下肢远端肌无力伴眼外肌、面部肌肉、咽肌无力,肌肉坏死不显著,可见RV。结论 在中国Miyoshi型、Nonaka型、TMD型、Welander型及OPDM型远端型肌病均可见到,各型临床表现及病理改变与国外报道基本一致。
Objective To investigate the clinical manifestations and muscle pathology of distal myopathy. Methods 71 patients with distal myopathy were retrospectively analyzed. Results Among the 71 patients, 26 cases of Nonaka type were diffuse or autosomal recessive. Most of them were tibialis anterior muscle weakness. The muscle necrosis was mild and the rimmed vacuole (RV) was more common. Miyoshi type 38 cases were sporadic or autosomal recessive, and more to the gastrocnemius weakness as the first symptom, severe muscle degeneration and necrosis, RV rare; TMD type 2 cases were sporadic cases, the lesion is mainly limited to the shin The anterior muscle, the progress of the disease is slow, there are muscle degeneration and necrosis, visible RV; Welander type in 4 cases were sporadic or autosomal dominant inheritance, with the fingers, the wrist weakness as the first symptom can affect the distal lower extremity, mild muscle degeneration Necrosis, even visible RV; OPDM type 1 cases, was autosomal dominant inheritance, manifested as lower extremity muscle weakness with extraocular muscles, facial muscles, pharyngeal muscle weakness, muscle necrosis was not significant, we can see RV. Conclusion Miyoshi type, Nonaka type, TMD type, Welander type and OPDM type distal myopathy can be seen in China. The clinical manifestations and pathological changes of all types are basically consistent with those reported in foreign countries.