Bethlem J, Wijngaarden G K
Brain. 1976 Mar;99(1):91-100. doi: 10.1093/brain/99.1.91.
Three pedigrees are described in which 28 living siblings suffered from a benign myopathy. The first symptoms were observed around the fifth year of life. The proximal muscles were more involved than the distal muscles, the extensors more than the flexors. Due to a marked paresis of the extensor digitorum communis muscles 22 patients showed a flexion contracture of the interphalangeal joints of the last four fingers. In addition 20 patients showed a flexion contracture of the elbows and 12 patients had a plantar flexion contracture of the ankles. A high incidence of congenital torticollis was found. The histopathological features were non-specific and remarkably uniform and consisted of a marked variation in muslce fibre diameter and a very marked increase of fatty tissue. Light-microscopy and electronmicroscopy did not show any specific structural changes. There was normal distribution of type I and type II fibres, without type-grouping or preferential atrophy of one of the fibre types. Lobulated type I fibres were found in 6 out of 12 biopsies. Post-mortem study of one case did not show any convincing features of a neurogenic disorder. As no relationship could be found between the siblings of the 3 pedigrees as far back as the beginning of the eighteenth century, this myopathy seemed to be a new nosological entity.
本文描述了三个家系，其中28名在世的兄弟姐妹患有良性肌病。最初症状出现在5岁左右。近端肌肉比远端肌肉受累更明显，伸肌比屈肌受累更明显。由于指总伸肌明显麻痹，22例患者出现了末节四指的指间关节屈曲挛缩。此外，20例患者出现肘部屈曲挛缩，12例患者出现踝关节跖屈挛缩。发现先天性斜颈的发病率很高。组织病理学特征无特异性且非常一致，表现为肌纤维直径明显变化和脂肪组织显著增加。光镜和电镜未显示任何特异性结构改变。I型和II型纤维分布正常，无纤维类型分组或某一纤维类型的优先萎缩。12例活检中有6例发现有分叶状I型纤维。对1例病例的尸检未发现任何令人信服的神经源性疾病特征。由于在追溯到18世纪初的3个家系的兄弟姐妹之间未发现任何关联，则这种肌病似乎是一种新的病种。
