한국인 성인발생 및 후기발생 근긴장디스트로피제 1형 환자의 임상 특성

Abstract

Objectives: To investigate the clinical characteristics and complications of Korean patients with myotonic dystrophy type 1 (DM1). Method: The medical records of 65 DM1 patients were reviewed retrospectively. We assessed the relationship between the age of onset, muscular impairment rating scale (MIRS) and complications of the DM1 with the number of cytosine-thymine-guanine (CTG) repeats. Results: The mean age of onset was 30.5 ± 10.3 years and the mean disease duration until diagnosis was 6.1 ± 6.0 years. The age of onset was inversely correlated to the number of CTG repeats (P = 0.034). For the systemic complications, 20 of 55 patients (36.4%) had arrhythmia, 18 of 49 patients (36.7%) needed ventilator support, 4 of 52 (7.7%) had diabetes mellitus and 19 of 35 (54.3%) had cataracts. The difference between the number of CTG repeats of patients with these complications and that of patients without complications was not significant. Conclusion: Regular follow-ups of electrocardiogram, pulmonary function test, blood sugar test and ocular examination is recommended for the patients with DM1.