Myotonic dystrophy type 1 - a multiorgan disorder.

IF 1.2 Q2 MEDICINE, GENERAL & INTERNAL Tidsskrift for Den Norske Laegeforening Pub Date : 2024-04-16 Print Date: 2024-04-23 DOI:10.4045/tidsskr.23.0687
Kristin Ørstavik, Gro Solbakken, Magnhild Rasmussen, Petter Schandl Sanaker, Hanne Ludt Fossmo, Einar Bryne, Torill Knutsen-Øy, Tonje Elgsås, Arvid Heiberg
{"title":"Myotonic dystrophy type 1 - a multiorgan disorder.","authors":"Kristin Ørstavik, Gro Solbakken, Magnhild Rasmussen, Petter Schandl Sanaker, Hanne Ludt Fossmo, Einar Bryne, Torill Knutsen-Øy, Tonje Elgsås, Arvid Heiberg","doi":"10.4045/tidsskr.23.0687","DOIUrl":null,"url":null,"abstract":"<p><p>Myotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis points to limited knowledge among the medical community that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each generation and some families are severely affected. Significantly delayed diagnosis means a risk of more serious development of the disorder and inadequate symptomatic treatment. We hope that this clinical review article may lead to more rapid diagnosis and better follow-up of this patient group.</p>","PeriodicalId":23123,"journal":{"name":"Tidsskrift for Den Norske Laegeforening","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tidsskrift for Den Norske Laegeforening","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4045/tidsskr.23.0687","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/23 0:00:00","PubModel":"Print","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

Abstract

Myotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis points to limited knowledge among the medical community that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each generation and some families are severely affected. Significantly delayed diagnosis means a risk of more serious development of the disorder and inadequate symptomatic treatment. We hope that this clinical review article may lead to more rapid diagnosis and better follow-up of this patient group.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
肌营养不良症 1 型--一种多器官疾病。
肌营养不良症 1 型是一种常染色体显性遗传性多器官疾病,可影响所有年龄段的人。它是成人中最常见的遗传性肌肉疾病。由于诊断较晚,医学界对典型肌肉症状以外的其他症状了解有限。这种疾病通常会一代比一代严重,有些家族会受到严重影响。明显的诊断延迟意味着疾病有可能发展得更严重,也意味着对症治疗不充分。我们希望这篇临床综述文章能为这类患者带来更快速的诊断和更好的随访。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Tidsskrift for Den Norske Laegeforening
Tidsskrift for Den Norske Laegeforening MEDICINE, GENERAL & INTERNAL-
CiteScore
0.60
自引率
18.20%
发文量
593
审稿时长
28 weeks
期刊最新文献
Rettelse: En kvinne i 30-årene med brystsmerter og sirkulatorisk sjokk etter fødsel. Alveolar echinococcosis. An abrupt end. Autism or Sukhareva's syndrome? En kvinne i 30-årene med brystsmerter og sirkulatorisk sjokk etter fødsel.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1