Bethlem myopathy:: a slowly progressive congenital muscular dystrophy with contractures
Bethlem myopathy:: a slowly progressive congenital muscular dystrophy with contractures
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DOI：
10.1093/brain/122.4.649
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发表时间：
1999-04-01
期刊：
影响因子：
14.5
通讯作者：
de Visser, M
中科院分区：
文献类型：
--
作者：
Jöbsis, GJ;Boers, JM;de Visser, M
Bethlem肌病是一种早发性良性常染色体显性肌病，由VI型胶原基因突变引起挛缩。据报道，发病发生在幼儿期。我们调查了Bethlem肌病的自然病程，在5个以前发表的kinetics和两个新的家系，特别注意23名儿童的发病模式和36名成人患者的虚弱进展。我们的分析表明，几乎所有的儿童在生命的前2年表现出虚弱或挛缩。早期特征包括胎动减少、新生儿张力减退和先天性挛缩，这些在儿童时期具有动态性质。Bethlem肌病在成人患者中的病程比以前认为的良性程度要低。由于进展缓慢但仍在进行中，超过三分之二的50岁以上的患者使用轮椅。
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of weakness in 36 adult patients. Our analysis shows that nearly all children exhibit weakness or contractures during the first 2 years of life. Early features include diminished foetal movements, neonatal hypotonia and congenital contractures which are of a dynamic nature during childhood. The course of Bethlem myopathy in adult patients is less benign than previously thought. Due to slow but ongoing progression, more than two-thirds of patients over 50 years of age use a wheelchair.