Kaminsky Pierre, Poussel Mathias, Pruna Lelia, Deibener Joëlle, Chenuel Bruno, Brembilla-Perrot Béatrice
From Médecine Interne (PK, LP, JD), Laboratoire d'Explorations Fonctionnelles Respiratoires (MP, BC), Cardiologie (BBP), Centre de Référence des Maladies Neuromusculaires (PK), and EA3450-Nancy-Université (MP, BC); Faculté de Médecine, and Centre Hospitalier Universitaire de Nancy, Hôpitaux de Brabois, Vandoeuvre, France.
Medicine (Baltimore). 2011 Jul;90(4):262-268. doi: 10.1097/MD.0b013e318226046b.
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized by muscle weakness and multiple organ impairment, especially the eyes, lung, and heart. We conducted the current study to analyze the prevalence and intercorrelation among these disorders and their respective relationships with muscular disability. We assessed medical history, anthropometric data, lung volumes, arterial and venous blood samples, surface 12-lead electrocardiogram, echocardiography, ophthalmologic examination, and muscular impairment rating scale (MIRS) in 106 patients (48 male and 58 female) with DM1, aged 43.7 ± 12.8 years. Obesity, hypertriglyceridemia, and diabetes were found in respectively 25.6%, 47.6%, and 17.1% of patients. Disabling cataract was found in 43.4%, and was independently predicted by age and MIRS. Restrictive lung disease was noted in 34%, and was predicted by MIRS, CTG repeat expansion, and body mass index. Conduction disorders were found in 30.2% of patients and were predicted by left ventricular ejection fraction, MIRS, and CTG repeat expansion.We found significant relationships between cataract, restrictive lung disease, and conduction disorders: patients with cataract and those with conduction disorders exhibited more severe restrictive lung disease than the other patients. Conversely, the relative risk of restrictive lung disease was 2.42 (1% confidence interval [CI], 1.06-5.51) in patients with cataract and 2.54 (1% CI, 1.26-5.07) in patients with conduction disorders. Multivariate analysis revealed that MIRS was the only independent predictor for conduction disorders and restrictive lung disease. MIRS ≥3 and MIRS ≥4 were the best simple cutoff values to predict, respectively, lung and cardiac involvements.To conclude, muscular disability, ophthalmologic, and cardiac and pulmonary involvement are strongly correlated. Particular attention should be given to these entities in patients with distal or proximal muscular weakness.
1型强直性肌营养不良（DM1）是一种多系统疾病，其特征为肌肉无力和多器官损害，尤其是眼睛、肺和心脏。我们开展了本研究，以分析这些疾病的患病率及其相互关系，以及它们与肌肉残疾的各自关系。我们评估了106例DM1患者（48例男性和58例女性）的病史、人体测量数据、肺容量、动脉和静脉血样、12导联体表心电图、超声心动图、眼科检查以及肌肉损伤评定量表（MIRS），这些患者年龄为43.7±12.8岁。分别有25.6%、47.6%和17.1%的患者存在肥胖、高甘油三酯血症和糖尿病。43.4%的患者存在致残性白内障，年龄和MIRS可独立预测其发生。34%的患者存在限制性肺病，MIRS、CTG重复序列扩增和体重指数可预测其发生。30.2%的患者存在传导障碍，左心室射血分数、MIRS和CTG重复序列扩增可预测其发生。我们发现白内障、限制性肺病和传导障碍之间存在显著关系：患有白内障和传导障碍的患者比其他患者表现出更严重的限制性肺病。相反，患有白内障的患者发生限制性肺病的相对风险为2.42（1%置信区间[CI]，1.06 - 5.51），患有传导障碍的患者为2.54（1%CI，1.26 - 5.07）。多变量分析显示，MIRS是传导障碍和限制性肺病的唯一独立预测因素。MIRS≥3和MIRS≥4分别是预测肺部和心脏受累的最佳简单临界值。总之，肌肉残疾、眼科以及心脏和肺部受累密切相关。对于有远端或近端肌肉无力的患者，应特别关注这些情况。
