Isaacs H, Badenhorst M
S Afr Med J. 1977 Aug 6;52(7):285-8.
Two brothers with inherited muscular atrophy and particular proneness to painful limbs are described. Symptoms of disease began at an early age with severe pains in the extremities. The pain is particularly aggravated by heat or fever and over the years has been associated with progressive muscular atrophy and sensory loss. A prominent feature of biopsy specimens was the tomaculous swellings which affected the myelin of the nerve axon and the motor nerve terminals.
本文描述了两兄弟患有遗传性肌肉萎缩症，且特别容易出现肢体疼痛。疾病症状在早年开始，表现为四肢剧痛。疼痛在受热或发烧时尤其加剧，多年来一直与进行性肌肉萎缩和感觉丧失有关。活检标本的一个显著特征是腊肠样肿胀，其影响神经轴突的髓鞘和运动神经末梢。
