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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Myotonic dystrophy type 1 presenting with dyspnea: A case report
Yu-Xi Jia, Chun-Ling Dong, Jia-Wei Xue, Xiao-Qin Duan, Ming-Yu Xu, Xiao-Min Su, Ping Li
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
BACKGROUND
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. In the present study, we reported a 35-year-old female DM1 patient with dyspnea as the primary onset clinical manifestation, analyzed her family's medical history, and reviewed related literature.
CASE SUMMARY
A 35-year-old woman was admitted to the hospital with dyspnea of 1 mo duration, and sleep apnea for 3 d. Her respiratory pattern and effort were normal, but limb muscle tension was low. Investigation into the patient's medical history revealed that she might have hereditary neuromuscular disease. Electromyography showed that her myotonia potentials were visible in the resting state of the examined muscles, with decreased motor unit potential time limit and amplitude. Genetic testing for DM1 revealed that the cytosine-thymine-guanine (CTG) repeat number of the DMPK gene exceeded 50, while cytosine-CTG expansion in intron 1 of ZNF9 gene was < 30 repeats. The patient was diagnosed with DM1.
CONCLUSION
DM1 is a genetic neuromuscular disease involving multiple systems, and the clinical phenotype in DM1 is extremely variable. Some patients with DM1 may be presented at the respiratory department because of dyspnea, which should be cautioned by the pulmonologists. There may be no obvious or specific symptoms in the early stage of disease, and clinicians should improve their understanding of DM1 and make an early diagnosis, which will improve patients’ quality of life.
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.
