Miller R G, Blank N K, Layzer R B
Ann Neurol. 1979 Mar;5(3):220-7. doi: 10.1002/ana.410050303.
With the exception of the large series of adult-onset hereditary distal myopathy from Sweden, few cases of primary muscle disease with a definite distal predilection have been published. We report 3 sporadic cases of distal myopathy with the following features: (1) early adult onset (26 to 33 years); (2) slowly progressive weakness affecting first the distal leg muscles and later the arms; (3) marked elevation of creatine phosphokinase (more than 10 times the normal value); and (4) electromyographic and histological evidence of myopathy in distal muscles. The differential diagnosis is discussed and other reported cases are reviewed. The differences between hereditary cases reported by others and the sporadic cases reported here form the basis for a tentative subclassification of this syndrome.
除了来自瑞典的大量成人起病的遗传性远端肌病病例外,很少有明确远端受累倾向的原发性肌肉疾病病例被报道。我们报告3例散发的远端肌病病例,具有以下特征:(1)成人早期起病(26至33岁);(2)缓慢进展的肌无力,首先影响远端腿部肌肉,随后累及手臂;(3)肌酸磷酸激酶显著升高(超过正常值10倍以上);(4)远端肌肉肌病的肌电图和组织学证据。文中讨论了鉴别诊断并回顾了其他报道的病例。其他报道的遗传性病例与本文报道的散发病例之间的差异构成了该综合征初步分类的基础。