肌营养不良症 1 型--一种多器官疾病。

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
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引用次数: 0

摘要

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。
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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.

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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
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