Yates J R, Emery A E
J Med Genet. 1985 Aug;22(4):250-7. doi: 10.1136/jmg.22.4.250.
Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy findings). In these 10 sibships there had been 11 affected subjects, significantly less than the 16.5 cases expected for autosomal recessive inheritance. Excluding cases suspected of being Becker muscular dystrophy, the prevalence was 0.7 per 100 000 (0.3 per 100 000 for proven cases of muscular dystrophy) and there remained a significant difference between the number of cases observed (5) and the number expected (9.1) for autosomal recessive inheritance. The prevalence of limb-girdle muscular dystrophy with onset in adult life has apparently declined over the past 30 years, as would be expected with the recognition of other conditions which cause the same pattern of weakness, making this a relatively rare disorder which should only be considered when other diagnoses have been excluded. The possibility that some cases diagnosed as limb-girdle muscular dystrophy may have had Becker muscular dystrophy emphasises the urgent need for a greater understanding of the biochemical basis of these conditions so that such diagnostic and genetic counselling dilemmas can be resolved.
研究试图对苏格兰洛锡安地区成年起病的肢带型肌营养不良进行全面确诊。共确定了10例索引病例，患病率为每10万人中1.3例（对于肌电图和肌肉活检结果均支持肌营养不良诊断的病例，患病率为每10万人中0.9例）。在这10个家系中，共有11名受累者，显著少于常染色体隐性遗传预期的16.5例。排除疑似贝克型肌营养不良的病例后，患病率为每10万人中0.7例（确诊的肌营养不良病例为每10万人中0.3例），观察到的病例数（5例）与常染色体隐性遗传预期的病例数（9.1例）之间仍存在显著差异。成年起病的肢带型肌营养不良的患病率在过去30年中显然有所下降，正如人们所预期的那样，随着对其他导致相同肌无力模式的疾病的认识增加，这使得这种疾病相对罕见，只有在排除其他诊断后才应考虑。一些被诊断为肢带型肌营养不良的病例可能患有贝克型肌营养不良，这一可能性强调了迫切需要更深入了解这些疾病的生化基础，以便解决此类诊断和遗传咨询方面的难题。
