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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 16, 2022; 10(20): 7060-7067
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.7060
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.7060
Myotonic dystrophy type 1 presenting with dyspnea: A case report
Yu-Xi Jia, Department of Orthopedics, The Second Hospital of Jilin University, Changchun 130041, Jilin Province, China
Yu-Xi Jia, Application Demonstration Center of Precision Medicine Molecular Diagnosis, The Second Hospital of Jilin University, Changchun 130041, Jilin Province, China
Chun-Ling Dong, Jia-Wei Xue, Ming-Yu Xu, Xiao-Min Su, Department of Respiratory and Critical Care Medicine, The Second Hospital of Jilin University, Changchun 130041, Jilin Province, China
Xiao-Qin Duan, Department of Rehabilitation Medicine, The Second Hospital of Jilin University, Changchun 130041, Jilin Province, China
Ping Li, Department of Developmental Pediatrics, The Second Hospital of Jilin University, Changchun 130041, Jilin Province, China
Author contributions: Dong CL, Xue JW, Su XM and Xu MY were the patient's doctors and reviewed the literature, Jia YX and Li P searched literature, drafted the manuscript and made genetic analysis; Li P critically revised the manuscript; Duan XQ analyzed and interpreted the electromyography findings; All authors issued final approval for the version to be submitted.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to this checklist.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ping Li, MD, PhD, Chief Doctor, Department of Developmental Pediatrics, The Second Hospital of Jilin University, No. 218 Ziqiang Street, Nanguan District, Changchun 130041, Jilin Province, China. l_ping@jlu.edu.cn
Received: December 15, 2021
Peer-review started: December 15, 2021
First decision: March 23, 2022
Revised: April 4, 2022
Accepted: May 21, 2022
Article in press: May 21, 2022
Published online: July 16, 2022
Peer-review started: December 15, 2021
First decision: March 23, 2022
Revised: April 4, 2022
Accepted: May 21, 2022
Article in press: May 21, 2022
Published online: July 16, 2022
Core Tip
Core Tip: Myotonic dystrophy type 1 (DM1) is a genetic neuromuscular disease involving multiple systems, especially the cardiopulmonary system. The clinical phenotype of DM1 patients is highly variable, which limits early diagnosis and treatment. The gold standard for the diagnosis of DM1 is genetic testing. Moreover, the management of DM1 patients involves genetic counseling, providing symptomatic treatment for myotonia and lethargy, and preventing cardiopulmonary complications. In the present study, we reported a rare case of a DM1 patient with dyspnea, analyzed her family's medical history, and reviewed related literature.