Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
复制标题
DOI：
10.1016/s0960-8966(02)00023-8
复制
发表时间：
2002-10-01
影响因子：
2.8
通讯作者：
Merlini, L
中科院分区：
文献类型：
--
作者：
Mercuri, E;Talim, B;Merlini, L
我们报告了来自5个家系的6例先天性肌营养不良症的临床和影像表现，这些先天性肌营养不良症患者的硬脊椎与染色体1p35-36上的硬脊椎肌营养不良症1连锁。所有病例均表现为脊柱僵硬，以颈、躯干无力为主，胸椎侧弯频繁而严重。呼吸损害总是在最初的十年中观察到。肌肉成像显示内收肌、缝匠肌和股二头肌明显受累，而股直肌和股薄肌相对较少受累。这种选择性肌肉受累的模式在所有六个病例中都是一致的，并且可以很容易地在计算机断层扫描或磁共振成像中观察到。这项研究的结果表明，肌肉成像结合临床评估可以帮助识别强直性脊柱肌营养不良症1形式的先天性肌营养不良症，并有助于进行适当的基因研究。(C)2002 Elsevier Science B.V.保留所有权利。
We report clinical and imaging findings in six cases from five families affected by the form of congenital muscular dystrophy with rigid spine linked to the locus rigid spine muscular dystrophy 1 on chromosome 1p35-36. All cases showed rigidity of the spine, predominant neck and trunk weakness and frequent and severe thoracic scoliosis. Respiratory impairment was always observed in the first decade. Muscle imaging showed a marked involvement of adductors, sartorius and biceps femoris while rectus femoris and gracilis were relatively spared. This pattern of selective muscle involvement was consistent in all six cases and could be easily observed on either computerised tomography or magnetic resonance imaging. The results of this study suggest that muscle imaging, in combination with clinical assessment can help to identify the rigid spine muscular dystrophy 1 form of congenital muscular dystrophy and can help to target the appropriate genetic investigations. (C) 2002 Elsevier Science B.V. All rights reserved.