Mohire M D, Tandan R, Fries T J, Little B W, Pendlebury W W, Bradley W G
Department of Neurology, University of Vermont College of Medicine, Burlington.
Neurology. 1988 Apr;38(4):573-80. doi: 10.1212/wnl.38.4.573.
We report a large French-Canadian kindred with 33 affected members in six generations showing early-onset autosomal dominant limb-girdle myopathy and contractures. This myopathy is unique because of its benign course, with many members only minimally impaired even in old age. Examination of affected members revealed mild to moderate proximal weakness and wasting. Contractures were observed at the elbows and ankles in all, while in some they were more widespread. Serum CK was either normal or slightly raised, and electrodiagnostic studies suggested a primary myopathy. Muscle biopsy revealed nonspecific features of a myopathy without fiber necrosis or regeneration. Cardiac involvement was absent clinically in all patients and at autopsy in two affected individuals. The similarities between four previously reported families and our own establishes this myopathy as a distinct clinicogenetic entity, for which we propose the name "Bethlem myopathy."
我们报告了一个法裔加拿大家族，该家族六代中有33名患者，表现为早发性常染色体显性遗传性肢带型肌病和挛缩。这种肌病很独特，因为其病程良性，许多成员即使到老年也仅有轻微损伤。对患病成员的检查发现有轻至中度近端肌无力和萎缩。所有人的肘部和脚踝均出现挛缩，而在一些人身上挛缩更为广泛。血清肌酸激酶（CK）正常或略有升高，电诊断研究提示为原发性肌病。肌肉活检显示肌病的非特异性特征，无纤维坏死或再生。所有患者临床均无心脏受累，两名患病个体尸检时也未发现心脏受累。此前报道的四个家族与我们的家族之间的相似之处，将这种肌病确立为一种独特的临床遗传实体，我们为此提议将其命名为“贝斯勒姆肌病”。
