Myotonic dystrophy type 1: A comparison between the adult- and late-onset subtype

被引:5
作者
Joosten, Isis B. T. [1 ,2 ]
Horlings, Corinne G. C. [1 ,2 ,3 ]
Vosse, Bettine A. H. [4 ]
Wagner, Anouk [1 ,2 ]
Bovenkerk, David S. H. [1 ,2 ]
Evertz, Reinder [5 ]
Vernooy, Kevin [5 ,6 ]
van Engelen, Baziel G. M. [7 ]
Faber, Catharina G. G. [1 ,2 ]
机构
[1] Maastricht Univ, Dept Neurol, Med Ctr, P Debyelaan 25, NL-6229 HX Maastricht, Netherlands
[2] Maastricht Univ, Sch Mental Hlth & Neurosci, Med Ctr, Maastricht, Netherlands
[3] Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria
[4] Maastricht Univ, Dept Resp Med, Med Ctr, Maastricht, Netherlands
[5] Radboud Univ Nijmegen, Dept Cardiol, Med Ctr, Nijmegen, Netherlands
[6] Maastricht Univ, Cardiovasc Res Inst Maastricht, Dept Cardiol, Med Ctr, Maastricht, Netherlands
[7] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands
关键词
cardiomyopathy; conduction delay; muscle weakness; myotonic dystrophy; noninvasive ventilation; phenotype; CTG REPEAT; AGE; RECOMMENDATIONS; HETEROGENEITY; ABNORMALITIES; MANAGEMENT; DISORDERS; DIAGNOSIS; SLEEP; DEATH;
D O I
10.1002/mus.27766
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Introduction/Aims: Although the extent of muscle weakness and organ complications has not been well studied in patients with late-onset myotonic dystrophy type 1 (DM1), adult-onset DM1 is associated with severe muscle involvement and possible life-threatening cardiac and respiratory complications. In this study we aimed to compare the clinical phenotype of adult-onset vs late-onset DM1, focusing on the prevalence of cardiac, respiratory, and muscular involvement. Methods: Data were prospectively collected in the Dutch DM1 registry. Results: Two hundred seventy-five adult-onset and 66 late-onset DM1 patients were included. Conduction delay on electrocardiogram was present in 123 of 275 (45%) adult-onset patients, compared with 24 of 66 (36%) late-onset patients (P= .218). DM1 subtype did not predict presence of conduction delay (odds ratio [OR] 0.706; confidence interval [CI] 0.405 to 1.230, P= .219). Subtype did predict indication for noninvasive ventilation (NIV) (late onset vs adult onset OR, 0.254; CI, 0.104 to 0.617; P = .002) and 17% of late-onset patients required NIV compared with 40% of adult-onset patients. Muscular Impairment Rating Scale (MIRS) scores were significantly different between subtypes (MIRS 1 to 3 in 66% of adult onset vs 100% of late onset [P < .001]), as were DM1-activ(C) scores (67 +/- 21 in adult onset vs 87 +/- 15 in late onset; P < .001). Discussion: Although muscular phenotype was milder in late-onset compared with adult-onset DM1, the prevalence of conduction delay was comparable. Moreover, subtype was unable to predict the presence of cardiac conduction delay. Although adult-onset patients had an increased risk of having an NIV indication, 17% of late-onset patients required NIV. Despite different muscular phenotypes, screening for multiorgan involvement should be equally thorough in late-onset as in adult-onset DM1.
引用
收藏
页码:130 / 137
页数:8
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