Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H
Brain. 1986 Feb;109 ( Pt 1):31-54. doi: 10.1093/brain/109.1.31.
A new type of progressive muscular dystrophy, autosomal recessive distal muscular dystrophy, is described, based on observations on 17 cases (8 males and 9 females) in 8 families, including an autopsied case. The disease developed in young adults. Muscle weakness and atrophy were most marked in the distal parts of the legs, especially in the gastrocnemius and soleus muscles, and then spread to the thighs and gluteal muscles. Early impairment of standing on tip-toe with retention of the ability to stand on the heels was conspicuous. Difficulty in climbing stairs, standing up and walking subsequently appeared, but rarely progressed to confinement to bed. The forearms became mildly atrophic, with decrease in grip strength, but the small hand muscles were spared. The EMG showed myopathic changes and nerve conduction was normal. Serum creatine kinase activity was characteristically increased up to 100-fold in the early stages of the disease. It was also markedly increased in subjects in the preclinical stage and mildly in some heterozygotes. Muscle biopsies revealed myopathic changes with severe segmental necrosis accompanied by regeneration. The changes were similar to those of Duchenne muscular dystrophy. An autopsied case, aged 68 years, showed generalized muscle abnormalities with a distal predominance. The muscles in the lower legs, especially those of the calves, were severely affected. No lesions were found in the brain, spinal cord or peripheral nerves.
基于对8个家庭中17例患者（8例男性和9例女性）的观察，包括1例尸检病例，描述了一种新型进行性肌营养不良症——常染色体隐性遗传性远端肌营养不良症。该疾病在年轻人中发病。肌肉无力和萎缩在腿部远端最为明显，尤其是腓肠肌和比目鱼肌，随后蔓延至大腿和臀肌。早期明显表现为踮脚尖站立能力受损而足跟站立能力保留。随后出现爬楼梯、起身和行走困难，但很少发展到卧床不起。前臂轻度萎缩，握力下降，但手部小肌肉未受累。肌电图显示肌病性改变，神经传导正常。血清肌酸激酶活性在疾病早期显著升高，可达正常水平的100倍。在临床前期患者中也明显升高，在一些杂合子中轻度升高。肌肉活检显示肌病性改变，伴有严重的节段性坏死及再生。这些改变与杜兴氏肌营养不良症相似。1例68岁的尸检病例显示全身肌肉异常，以远端为主。小腿肌肉，尤其是小腿肚的肌肉，受到严重影响。在脑、脊髓或周围神经中未发现病变。
