Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by CCTG repeats expansion in the first intron of the CNBP gene. In this review we focus on the brain involvement in DM2, including its pathogenic mechanisms, microstructural, macrostructural and functional brain changes, as well as the effects of all these impairments on patients’ everyday life. We also try to understand how brain abnormalities in DM2 should be adequately measured and potentially treated. The most important pathogenetic mechanisms in DM2 are RNA gain-of-function and repeat-associated non-ATG (RAN) translation. One of the main neuroimaging findings in DM2 is the presence of diffuse periventricular white matter hyperintensity lesions (WMHLs). Brain atrophy has been described in DM2 patients, but it is not clear if it is mostly caused by a decrease of the white or gray matter volume. The most commonly reported specific cognitive symptoms in DM2 are dysexecutive syndrome, visuospatial and memory impairments. Fatigue, sleep-related disorders and pain are also frequent in DM2. The majority of key symptoms and signs in DM2 has a great influence on patients’ daily lives, their psychological status, economic situation and quality of life.

肌强直性营养不良 2 型 (DM2) 是一种常染色体显性遗传多系统疾病，由 CNBP 第一个内含子中的CCTG重复扩增引起基因。在这篇综述中，我们关注大脑参与 DM2，包括其致病机制、微观结构、宏观结构和功能性大脑变化，以及所有这些损伤对患者日常生活的影响。我们还试图了解 DM2 中的大脑异常应该如何被充分测量和潜在的治疗。DM2 中最重要的发病机制是 RNA 的功能获得和重复相关的非 ATG (RAN) 翻译。DM2 的主要神经影像学发现之一是存在弥漫性脑室周围白质高信号病变 (WMHL)。在 DM2 患者中已经描述了脑萎缩，但尚不清楚它是否主要由白质或灰质体积减少引起。DM2 中最常报告的特定认知症状是执行障碍综合征，视觉空间和记忆障碍。疲劳、睡眠相关疾病和疼痛在 DM2 中也很常见。DM2中的大多数关键症状和体征对患者的日常生活、心理状态、经济状况和生活质量有很大影响。