Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
Faculty of Biology, Center for Human Molecular Genetics, University of Belgrade, Belgrade, Serbia.
J Neuromuscul Dis. 2018;5(4):461-469. doi: 10.3233/JND-180328.
Myotonic dystrophy type 2 (DM2) is a multisystem disorder, mostly presented with mild but heterogeneous spectrum of symptoms.
The aim of this research was to provide detailed sociodemographic, clinical and laboratory data of a large DM2 cohort from the Serbian registry.
In 2008, we started to prospectively enter data of all DM patients. We also retrospectively collected data of patients hospitalized from 1990 until 2008.
At the end of 2017, registry comprised 87 (68%) of 128 genetically confirmed DM2 patients in Serbia, i.e. 1.2 registered cases per 100,000 inhabitants. Female subjects were more prevalent (63%). The diagnostic delay was 11.8±11.3 years. The most common first symptoms in our patients were lower limb weakness, handgrip myotonia and limb pain, although some percentage of patients presented with cataracts or extrapyramidal symptoms and signs. Lens opacities were present in 75% of patients. Severe ECG abnormalities were noted in 8% and pacemaker was implanted in 5% of DM2 subjects. Pulmonary restriction was observed in 10% of DM2 patients. Insulin resistance and diabetes mellitus were frequent in our cohort (21% and 17%, respectively). Male subjects more frequently had snoring, baldness, sterility, polyneuropathy, lower HDL and higher glycaemia, while waddling gait and increased muscle reflexes were more common in females.
This registry offers a spectrum of different features presented in Serbian DM2 population, which could be at service of earlier diagnosis and better treatment.
肌强直性营养不良 2 型（DM2）是一种多系统疾病，主要表现为轻度但具有异质性的症状谱。
本研究旨在为来自塞尔维亚登记处的大型 DM2 队列提供详细的社会人口学、临床和实验室数据。
2008 年，我们开始前瞻性地输入所有 DM 患者的数据。我们还回顾性地收集了 1990 年至 2008 年住院患者的数据。
截至 2017 年底，该登记处包括塞尔维亚 128 名基因确诊的 DM2 患者中的 87 名（68%），即每 10 万居民中有 1.2 例登记病例。女性患者更为常见（63%）。诊断延迟为 11.8±11.3 年。我们患者中最常见的首发症状是下肢无力、手握肌强直和肢体疼痛，尽管有一定比例的患者出现白内障或锥体外系症状和体征。75%的患者存在晶状体混浊。8%的患者出现严重心电图异常，5%的 DM2 患者植入起搏器。10%的 DM2 患者存在肺限制。我们的队列中经常出现胰岛素抵抗和糖尿病（分别为 21%和 17%）。男性患者更常出现打鼾、秃顶、不育、多发性神经病、低 HDL 和高血糖，而女性患者更常出现蹒跚步态和增加的肌肉反射。
该登记处提供了塞尔维亚 DM2 人群中呈现的不同特征谱，这可能有助于更早的诊断和更好的治疗。
