强直性肌营养不良症(myotonic dystrophy,DM)是一种常染色体显性遗传性神经肌肉疾病,发病率1/8000～1/20000,为最常见的累及成人的肌营养不良症。近年来的分子遗传学研究表明,19号染色体上的一蛋白激酶基因为本病的候选基因,且三联体(CTG)。拷贝数的增加与本病的发生有关。本文就最近几年有关DM的分子遗传学研究进展与本病的临床联系及有关DM的产前或症状前诊断等问题作一综述。 Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease with a prevalence of 1/8000 to 1/20000, the most common muscular dystrophy involving adults. In recent years, molecular genetic studies have shown that a protein kinase gene on chromosome 19 is a candidate gene for this disease, and the triplet (CTG). The increase of copy number is related to the occurrence of this disease. In this paper, the recent years on the molecular genetic studies of DM and the clinical development of the disease and the DM prenatal or symptomatic diagnosis and other issues are reviewed.