1 型肌强直性营养不良成人的生存和 CTG 重复扩展。

Survival and CTG repeat expansion in adults with myotonic dystrophy type 1.

机构信息

Department of Medicine, Division Cardiology, Krannert Institute of Cardiology, Indiana University, 1800 North Capitol, Room E300C, Indianapolis, Indiana 46202, USA.

出版信息

Muscle Nerve. 2011 May;43(5):648-51. doi: 10.1002/mus.21934.

DOI:10.1002/mus.21934

PMID:21484823

Abstract

INTRODUCTION

An association is observed between the severity of myotonic dystrophy type 1 (DM1) and the genetic abnormality of cytosine-thymine-guanine (CTG) repeat expansion. It is unknown whether an association exists between survival and CTG repeat expansion.

METHODS

In an adult 406-patient DM1 cohort, the phenotype, including survival age, was evaluated in relation to CTG repeat expansion.

RESULTS

At study entry, age was 42 ± 12 (range 18-78) years, with a CTG repeat length of 629 ± 386 (range 54-1965). An inverse correlation was observed between CTG repeat length and the age at onset and younger DM1 phenotype. Over a follow-up of 9.2 ± 3.1 years, 118 (29.1%) patients died, including 60 of neuromuscular respiratory failure, 41 of cardiac causes, and 17 of non-neuromuscular, non-cardiac causes. There was an inverse relationship between all-cause survival and CTG length (relative risk 5.4 per log repeat, 95% confidence interval 2.9-10.2, P < 0.001).

CONCLUSION

The data demonstrate a genotype-mortality association in DM1.

摘要

简介

在 1 型肌强直性营养不良（DM1）患者中，观察到肌营养不良严重程度与胞嘧啶-胸腺嘧啶-鸟嘌呤（CTG）重复扩展的遗传异常之间存在关联。尚不清楚生存与 CTG 重复扩展之间是否存在关联。

方法

在一项包含 406 名成年 DM1 患者的队列研究中，评估了 CTG 重复扩展与表型（包括生存年龄）之间的关系。

结果

在研究开始时，年龄为 42 ± 12 岁（范围 18-78 岁），CTG 重复长度为 629 ± 386 个（范围 54-1965 个）。CTG 重复长度与发病年龄和年轻的 DM1 表型呈负相关。在 9.2 ± 3.1 年的随访中，有 118 例（29.1%）患者死亡，包括 60 例因神经肌肉呼吸衰竭，41 例因心脏原因，17 例因非神经肌肉、非心脏原因。全因生存率与 CTG 长度呈负相关（每对数重复的相对风险为 5.4，95%置信区间为 2.9-10.2，P<0.001）。