Goto I, Nagasaka S, Nagara H, Kuroiwa Y
J Neurol Neurosurg Psychiatry. 1979 Mar;42(3):276-9. doi: 10.1136/jnnp.42.3.276.
A patient is described with distinctive clinical features including childhood onset of non-progressive muscle weakness, limitation of flexion of the neck and spine, scoliosis, and joint contracture. Muscle biopsy and electromyography showed findings suggestive of a myopathic disorder. The combination of these distinctive clinical features is termed the rigid spine syndrome. Only six cases have been reported in the literature to date.
描述了一名具有独特临床特征的患者,包括儿童期起病的非进行性肌肉无力、颈部和脊柱屈曲受限、脊柱侧弯以及关节挛缩。肌肉活检和肌电图检查结果提示为肌病性疾病。这些独特临床特征的组合被称为僵硬脊柱综合征。迄今为止,文献中仅报道了6例。