Research Centre for Medical Genetics, Moskvorechie Str. 1, 115522 Moscow, Russia.
North Ossetian State Medical Academy of the Ministry of Health of the Russian Federation, Pushkinskaya St., 40, Republic of North Ossetia-Alania, 362019 Vladikavkaz, Russia.
Int J Mol Sci. 2024 Sep 9;25(17):9734. doi: 10.3390/ijms25179734.
Myotonic dystrophy type 1 (DM1) is a multisystem disorder with progressive myopathy and myotonia. The clinical study was conducted in the Republic of North Ossetia-Alania (RNOA), and in it 39 individuals from 17 unrelated families were identified with DM1. Clinical presentations varied, including muscle weakness, fatigue, intellectual disability, hypersomnia, ophthalmological abnormalities, and alopecia. Using clinical and genotyping data, we confirmed the diagnosis and enabled the study of CTG-repeat anticipation and DM1 prevalence in the Ossetian and Ingush populations. CTG expansion correlated with age of onset, with clinical severity, and with offspring showing more severe symptoms than parents. In many families, the youngest child had a more severe DM1 phenotype than older siblings. The prevalence was 14.17 per 100,000 in Ossetians and 18.74 per 100,000 in Ingush people, aligning with global data. Segregation analysis showed a higher frequency of maternal transmission. The study highlights the clinical and genetic heterogeneity of DM1 and its dependence on repeat expansion and paternal and maternal age.
1 型肌强直性营养不良（DM1）是一种多系统疾病，具有进行性肌病和肌强直。本临床研究在北奥塞梯-阿兰共和国（RNOA）进行，在 17 个无血缘关系的家族中，共发现 39 名 DM1 患者。临床表现多样，包括肌肉无力、疲劳、智力障碍、嗜睡、眼科异常和脱发。使用临床和基因分型数据，我们确认了诊断，并研究了 CTG 重复扩张和 Ossetian 和 Ingush 人群中 DM1 的患病率。CTG 扩张与发病年龄、临床严重程度以及子女比父母表现出更严重的症状相关。在许多家庭中，最小的孩子比年长的兄弟姐妹有更严重的 DM1 表型。Ossetians 中的患病率为每 10 万人 14.17 例，Ingush 人为每 10 万人 18.74 例，与全球数据一致。分离分析显示出母系传递的更高频率。该研究强调了 DM1 的临床和遗传异质性，以及其对重复扩张以及父系和母系年龄的依赖性。
