Neurology Unit, Department of Biomedical, Metabolic and Neural Sciences, University Hospitals of Modena, Via P. Giardini, 1355, Modena, Italy.
Pneumology Unit, Santa Maria Bianca Hospital, AUSL Modena, Mirandola, Modena, Italy.
Acta Neurol Belg. 2021 Feb;121(1):133-142. doi: 10.1007/s13760-020-01425-z. Epub 2020 Jul 10.
We studied 33 patients affected by juvenile and adult myotonic dystrophy type 1 (DM1). The aim of the study was to assess clinical and laboratory parameters that could predict the requirement of noninvasive ventilation (NIV) in DM1. Secondary outcome was to assess the interplay between genetic profile, muscle impairment severity and presence of cardiac comorbidities.Patients with genetic diagnosis of DM1 were recruited. An abnormal trinucleotide repeat (CTG) expansion of dystrophy protein kinase gene (DMPK) on chromosome 19q13.3 was the prerequisite for inclusion. The number of triplet repeats was measured in genomic DNA to classify subjects. A multidisciplinary team evaluated the patients every 6-8 months up to 18 years with serial cardiological and respiratory function assessments. Neurological progression was monitored using a validated DM1-specific rating scale (MIRS). Independent variables considered for the study outcomes were gender, genetic status, age of presentation, MIRS scores, and results of pulmonary function tests (PFTs).Patients were 17 males (51.5%) and 16 females (48.5%). 16 cases were younger than mean age of 31.4 years, the remaining 17 were up to 65. 12 subjects (36.4%) underwent NIV during follow up. Cardiac comorbidities were detected in 63.6% of cases and in 91% of patients in NIV. Among PFTs, forced vital capacity (FVC) was a reliable indicator of respiratory decline. FVC values were significantly associated with clinical muscle severity assessed by MIRS.Severity of muscular impairment, CTG expansion size, age and presence of cardiac comorbidities predict respiratory impairment in DM1.
我们研究了 33 名患有青少年和成年型肌强直性营养不良 1 型（DM1）的患者。本研究旨在评估可能预测 DM1 患者需要无创通气（NIV）的临床和实验室参数。次要结果是评估基因谱、肌肉损伤严重程度和存在心脏合并症之间的相互作用。
我们招募了具有 DM1 基因诊断的患者。19q13.3 染色体上的肌营养不良蛋白激酶基因（DMPK）异常三核苷酸重复（CTG）扩展是纳入的前提条件。通过测量基因组 DNA 中的三核苷酸重复次数来对受试者进行分类。多学科团队每 6-8 个月对患者进行一次评估，最长可达 18 年，进行连续的心脏和呼吸功能评估。使用经过验证的 DM1 特异性评分量表（MIRS）监测神经进展。研究结果的考虑的独立变量为性别、遗传状态、发病年龄、MIRS 评分和肺功能检查（PFT）结果。
患者中 17 名男性（51.5%）和 16 名女性（48.5%）。16 例患者的年龄小于平均年龄 31.4 岁，其余 17 例患者的年龄在 65 岁以下。12 例（36.4%）患者在随访期间接受了 NIV。63.6%的患者存在心脏合并症，91%接受 NIV 的患者存在心脏合并症。在 PFTs 中，用力肺活量（FVC）是呼吸下降的可靠指标。FVC 值与 MIRS 评估的肌肉临床严重程度显著相关。
肌肉损伤的严重程度、CTG 扩展大小、年龄和心脏合并症的存在预测了 DM1 患者的呼吸损伤。
