Théry C, Krivosic I, Dewailly P, Pirot J, Lablanche J M, Jaillard J
Arch Mal Coeur Vaiss. 1981 Aug;74(8):985-91.
The "rigid spine syndrome" is a rare form of myopathy characterised by rigidity of the dorso-lumbar spine, hyperextension of the neck and muscular retraction limiting mobility, especially of the upper limbs with elbows fixed in semi-flexion. This condition, which was first described relatively recently, has been little studied: only 8 cases have been published to this day. We report the case of a 20 year old man with this syndrome, associated with a severe diffuse non-obstructive hypertrophic cardiomyopathy. Electronic microscopy and histoenzymological studies were performed on the skeletal muscle. They confirmed myopathic changes, demonstrating a great variation in diameter of the fibres, but there was no evidence of a predominating histoenzymological form (type I muscular atrophy) as previously reported. Although there have been no other reports of cardiac involvement in the "rigid spine syndrome", a link between the two conditions would seem to be likely.
“僵硬脊柱综合征”是一种罕见的肌病形式，其特征为背腰部脊柱僵硬、颈部过度伸展以及肌肉挛缩限制活动，尤其是上肢活动，肘部固定于半屈曲状态。这种疾病相对较新才首次被描述，研究较少：至今仅发表了8例病例报告。我们报告一例患有该综合征的20岁男性病例，该病例伴有严重的弥漫性非梗阻性肥厚型心肌病。对其骨骼肌进行了电子显微镜检查和组织酶学研究。结果证实存在肌病改变，显示纤维直径差异很大，但没有证据表明存在先前报道的占主导的组织酶学形式（I型肌肉萎缩）。尽管此前尚无其他关于“僵硬脊柱综合征”心脏受累的报告，但这两种情况之间似乎可能存在关联。
