Reifer H, Sobel E
Department of Orthopedics, New York College of Podiatric Medicine, New York 10035, USA.
J Am Podiatr Med Assoc. 1998 Jul;88(7):313-22. doi: 10.7547/87507315-88-7-313.
Myotonic dystrophy, the most common inherited neuromuscular disease, is an autosomal dominant muscular dystrophy characterized by myotonia and distal muscle weakness. It is caused by an increase in the number of cytosine-thymine-guanine (CTG) nucleotide repeats present on the long arm of chromosome 19. Two patients were evaluated, one with classic adult-onset myotonic dystrophy and the other with congenital myotonic dystrophy. Contrasts in the clinical features and genetic transmission of this disease and clinical management are reviewed.
强直性肌营养不良是最常见的遗传性神经肌肉疾病，是一种常染色体显性遗传性肌营养不良，其特征为肌强直和远端肌无力。它是由19号染色体长臂上存在的胞嘧啶 - 胸腺嘧啶 - 鸟嘌呤（CTG）核苷酸重复序列数量增加所引起的。对两名患者进行了评估，一名患有典型的成人型强直性肌营养不良，另一名患有先天性强直性肌营养不良。本文回顾了该疾病在临床特征、遗传传递及临床管理方面的差异。
