强直性肌营养不良(myotonic dystrophy, DM)是一种罕见的多系统受累的常染色体显性遗传疾病,由DNA串联重复序列扩增导致RNA功能突变所致,各年龄阶段均可发病。由于该病个体临床表现差异较大且轻重程度不一,给诊断带来一定的困难。对于考虑DM的患者应详细询问病史、家族史,并结合影像学、肌电图、肌肉活检提高对本病的诊断,最终通过基因检测确诊。DM病程进展缓慢,轻者多数不影响寿命,重型患者早期可出现心源性猝死,后期可有肺部感染、营养障碍等致死性并发症。遗憾的是目前DM无特效治疗方法,主要是对症治疗以及对并发症的防治。本文对1例成人型DM1型病例进行报告,旨在提高对该病的认识与诊断水平。Myotonic dystrophy (DM) is a rare, multisystemic, autosomal dominant genetic disorder characterized by the expansion of DNA tandem repeat sequences, resulting in RNA functional mutations that can impact individuals across all age groups. Given the broad spectrum of clinical manifestations and variable severity, diagnosing DM poses significant challenges. In patients with suspected DM, it is imperative to conduct a thorough medical and family history review, complemented by imaging studies, electromyography, and muscle biopsies to enhance diagnostic accuracy. Definitive diagnosis, however, relies on genetic testing. The progression of the disease is typically slow;mild cases often do not compromise life expectancy. Conversely, severe cases may lead to early cardiac sudden death and, in later stages, potentially fatal complications such as pulmonary infections and nutritional deficiencies. Regrettably, there are currently no curative treatments available for DM, and therapeutic strategies primarily focus on alleviating symptoms and managing complications. This case report aims to highlight an instance of adult-onset DM1, underscoring the importance of heightened awareness and improved diagnostic approaches for this condition.
