Taylor J, Sewry C A, Dubowitz V, Muntoni F
Department of Paediatrics and Neonatal Medicine, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
Neurology. 1998 Oct;51(4):1116-20. doi: 10.1212/wnl.51.4.1116.
To describe the clinical and histopathologic picture of a childhood-onset, severe variant of scapuloperoneal MD with rigidity of the spine.
Rigidity of the spine is a feature of numerous syndromes, including X-linked Emery-Dreifuss MD, Bethlem myopathy, and the rigid spine syndrome. These are, however, relatively static or very slowly progressive neuromuscular disorders, usually associated with preserved ambulation into adult life.
Five unrelated children (three boys and two girls) presented in the first 2 years of life with poor neck control, waddling gait, and frequent falls. Early wasting of the distal leg muscles, biceps, triceps, and neck muscles was noted in all patients, and all had contractures and severe rigidity of the spine. The condition progressed rapidly, and all patients lost ambulation before the age of 8 years. Cardiac function was normal in all.
Creatine kinase was moderately elevated in all, and muscle biopsy specimens showed nonspecific dystrophic changes with normal expression of dystrophin, the sarcoglycans, and laminin alpha2, alpha5, beta1, and gamma1 chains. Emerin expression was normal in two of the boys whose tissue was available for study.
The distribution of weakness, wasting, and contractures of the patients described resembled Emery-Dreifuss MD, but the rapid progression of weakness and contractures and the involvement of both sexes together with normal emerin expression suggest that this form is not X-linked Emery-Dreifuss MD. We suggest that these patients represent a severe MD characterized by early onset distal wasting and severe rigidity of the spine, with probable autosomal recessive inheritance.
描述儿童期起病、伴有脊柱强直的肩胛腓骨型肌营养不良严重变异型的临床及组织病理学表现。
脊柱强直是多种综合征的特征，包括X连锁埃默里 - 德赖富斯肌营养不良、贝斯勒姆肌病和脊柱强直综合征。然而，这些是相对静止或进展非常缓慢的神经肌肉疾病，通常在成年期仍能保持行走能力。
5名无血缘关系的儿童（3名男孩和2名女孩）在出生后的头2年内出现颈部控制能力差、鸭步和频繁跌倒。所有患者均早期出现小腿远端肌肉、肱二头肌、肱三头肌和颈部肌肉萎缩，且均有挛缩和严重的脊柱强直。病情进展迅速，所有患者在8岁前丧失行走能力。所有患者心脏功能均正常。
所有患者肌酸激酶均中度升高，肌肉活检标本显示非特异性营养不良性改变，肌营养不良蛋白、肌聚糖和层粘连蛋白α2、α5、β1和γ1链表达正常。在可用于研究组织的两名男孩中，emerin表达正常。
所描述患者的肌无力、萎缩和挛缩分布类似于埃默里 - 德赖富斯肌营养不良，但肌无力和挛缩的快速进展、男女均受累以及emerin表达正常表明这种类型并非X连锁埃默里 - 德赖富斯肌营养不良。我们认为这些患者代表一种严重的肌营养不良，其特征为早期起病的远端萎缩和严重的脊柱强直，可能为常染色体隐性遗传。
