肌强直性营养不良症患者的体验：一项北美横断面研究。
The myotonic dystrophy experience: a North American cross-sectional study.
机构信息
Department of Neurology, Stanford University, 1201 Welch Road, MSLS Room P220, Stanford, California, 94305, USA.
Marigold Foundation, Calgary, Alberta, Canada.
出版信息
Muscle Nerve. 2019 Apr;59(4):457-464. doi: 10.1002/mus.26420. Epub 2019 Feb 5.
INTRODUCTION
Myotonic dystrophy (DM) is a chronic, multisystemic, neurological condition. Patients and caregivers are uniquely suited to identify what symptoms are most important and highlight the unmet needs that are most relevant to DM.
METHODS
We conducted a North American, cross-sectional study of people with DM type-1, congenital DM, and DM type-2 and their family members. We sent patients and caregivers separate surveys to identify and quantitate the issues of greatest importance, examine the differences between groups, and identify the most important challenges experienced by this population.
RESULTS
1,180 people with DM and 402 family members/caregivers responded to the surveys. They reported considerable physical and cognitive symptoms, extensive diagnostic delays, and varying clinical phenotypes on the basis of DM type.
DISCUSSION
Marked disease burden and numerous unmet needs exist in DM. These needs vary based on DM type and highlight the complex clinical phenotypes of these neurological disorders. Muscle Nerve 59:457-464, 2019.
简介
肌强直性营养不良（DM）是一种慢性、多系统的神经疾病。患者及其照护者最适合识别哪些症状最重要，并突出与 DM 最相关的未满足需求。
方法
我们进行了一项北美、横断面的研究，纳入了 1 型 DM、先天性 DM 和 2 型 DM 患者及其家庭成员。我们向患者和照护者分别发送了调查，以确定和量化最重要的问题，检查不同组之间的差异，并确定该人群面临的最重要挑战。
结果
1180 名 DM 患者和 402 名家庭成员/照护者对调查做出了回应。他们报告了相当多的身体和认知症状、广泛的诊断延迟，以及基于 DM 类型的不同临床表现。
讨论
DM 存在显著的疾病负担和大量未满足的需求。这些需求因 DM 类型而异，突出了这些神经疾病的复杂临床表现。肌肉神经 59:457-464, 2019.
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