Department of Biomedical, Metabolic and Neural Sciences, University Hospitals of Modena, Italy.
Respiratory Unit, Mirandola Hospital, Italy.
Acta Myol. 2020 Sep 1;39(3):109-120. doi: 10.36185/2532-1900-015. eCollection 2020 Sep.
The aim of the study was to identify possible predictors of neurological worsening and need of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy.
A retrospective observational cohort study was undertaken. Thirty-three patients with genetic diagnosis of DM1 were followed at our Neuromuscular unit in Modena. Abnormal trinucleotide repeat (CTG) expansion of dystrophy protein kinase gene (MDPK) on chromosome 19q 13.3 was the prerequisite for inclusion. The number of CTG repeats was determined. All the participants were older than 14 at the time of enrolment, therefore they could be included into the juvenile or adult form of the disease. Participants were neurologically evaluated every 6-8 months up to 18 years. Neurological impairment was assessed by Muscular Impairment Rating (MIRS), Medical Research Council (MRC), and modified Rankin (mRS) scales. The independent variables considered for prognosis were age at first evaluation, duration of the disease, CTG repeat number, gender, and presence of cardiac and vascular morbidities.Male patients were 51.5% and female patients 48.5%. Sixteen patients were younger than the mean age of 30.1 years, while the remaining 17 were up to 65. Twelve subjects (36.4%) underwent NIV before the end of follow-up. Muscle force and disability scores showed statistically significant deterioration (p < 0.001) during follow-up. The worsening was significantly higher among patients carrying higher number of CTG repeats and of younger age. The presence of cardio-vascular involvement has significant impact on neurological and respiratory progression.Neurological worsening is predicted by CTG expansion size, young age and presence of cardio-vascular morbidities.
本研究旨在确定肌强直性营养不良 1 型（DM1）患者神经恶化和需要无创通气（NIV）的可能预测因素，DM1 是最常见的成人发病型肌肉营养不良。
本研究采用回顾性观察队列研究。在摩德纳神经肌肉科，对 33 例经基因诊断为 DM1 的患者进行了随访。19q13.3 号染色体上肌营养不良蛋白激酶基因（MDPK）异常三核苷酸重复（CTG）扩张是纳入本研究的前提。确定 CTG 重复数。所有参与者在入组时年龄均大于 14 岁，因此他们可以被纳入疾病的青少年或成年期。每 6-8 个月对参与者进行一次神经学评估，最长评估 18 年。神经损伤通过肌肉损伤评分（MIRS）、医学研究委员会（MRC）和改良 Rankin（mRS）量表进行评估。考虑的预后独立变量为首次评估时的年龄、疾病持续时间、CTG 重复数、性别以及是否存在心脏和血管并发症。男性患者占 51.5%，女性患者占 48.5%。16 名患者年龄小于 30.1 岁的平均年龄，其余 17 名患者年龄在 30.1 岁至 65 岁之间。12 名受试者（36.4%）在随访结束前接受了 NIV。在随访过程中，肌肉力量和残疾评分均出现统计学显著恶化（p<0.001）。携带 CTG 重复数较高和年龄较小的患者恶化程度更高。心血管受累的存在对神经和呼吸进展有显著影响。
神经恶化由 CTG 扩展大小、年龄较小和存在心血管并发症预测。
