Department of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):358-67. doi: 10.1136/jnnp.2008.158261. Epub 2010 Feb 22.
There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) myotonic dystrophy type 1 (DM1), also known as 'Steinert's disease'; and (2) myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy. DM1 and DM2 are progressive multisystem genetic disorders with several clinical and genetic features in common. DM1 is the most common form of adult onset muscular dystrophy whereas DM2 tends to have a milder phenotype with later onset of symptoms and is rarer than DM1. This review will focus on the clinical features, diagnosis and management of DM1 and DM2 and will briefly discuss the recent advances in the understanding of the molecular pathogenesis of these diseases with particular reference to new treatments using gene therapy.
（1）肌强直性营养不良 1 型（DM1），也称为“Steinert 病”；和（2）肌强直性营养不良 2 型（DM2），也称为近端肌强直性肌病。DM1 和 DM2 是进行性多系统遗传疾病，具有几个共同的临床和遗传特征。DM1 是最常见的成人发病肌营养不良症，而 DM2 倾向于表现出较轻的表型，症状出现较晚，比 DM1 更为罕见。这篇综述将重点讨论 DM1 和 DM2 的临床特征、诊断和管理，并将简要讨论对这些疾病分子发病机制的最新认识，特别提到使用基因治疗的新治疗方法。
