Abstract：
Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited myopathies with a high prevalence across different ethnic regions. Despite some differences, mainly due to the pattern of muscle involvement and the age of onset, both forms, DM1 and DM2, share many clinical and genetic similarities. In this study, we retrospectively analyzed the medical record files of 561 Greek patients, 434 with DM1 and 127 with DM2 diagnosed in two large academic centers between 1994-2020. The mean age at onset of symptoms was 26.2 ± 15.3 years in DM1 versus 44.4 ± 17.0 years in DM2 patients, while the delay of diagnosis was 10 and 7 years for DM1 and DM2 patients, respectively. Muscle weakness was the first symptom in both types, while myotonia was more frequent in DM1 patients. Multisystemic involvement was detected in the great majority of patients, with cataracts being one of the most common extramuscular manifestations, even in the early stages of disease expression. In conclusion, the present work, despite some limitations arising from the retrospective collection of data, is the first record of a large number of Greek patients with myotonic dystrophy and emphasizes the need for specialized neuromuscular centers that can provide genetic counseling and a multidisciplinary approach.
摘要：
肌强直性营养不良（DM，肌营养不良症）是常染色体显性遗传性肌病，在不同种族地区患病率很高。尽管有一些差异,主要是由于肌肉受累的模式和发病年龄，两种形式，DM1和DM2具有许多临床和遗传相似性。在这项研究中,我们回顾性分析了561例希腊患者的病历档案，在1994年至2020年之间，在两个大型学术中心诊断出434例DM1和127例DM2。DM1患者症状发作的平均年龄为26.2±15.3岁，DM2患者为44.4±17.0岁，而DM1和DM2患者的诊断延迟为10年和7年，分别。肌肉无力是两种类型的首发症状，而肌强直在DM1患者中更为常见。在绝大多数患者中检测到多系统受累，白内障是最常见的肌外表现之一，甚至在疾病表达的早期阶段。总之,目前的工作,尽管回顾性收集数据有一些限制，是大量希腊肌强直性营养不良患者的第一份记录，并强调需要专门的神经肌肉中心，可以提供遗传咨询和多学科方法。
