{"title":"肌营养不良症 1 型--一种多器官疾病。","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":"{\"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}","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}
Myotonic dystrophy type 1 - a multiorgan disorder.
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.