Unveiling dysferlinopathy: A rare genetic cause of progressive muscle weakness in a Malay woman
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Lai Mei Kuen 1 , Siti Suhaila Mohd Yusoff 1 * , Aida Maziha Zainudin 2
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1 Department of Family Medicine, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, MALAYSIA2 Department of Pharmacology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, MALAYSIA* Corresponding Author

Abstract

Dysferlinopathy, which is characterized by progressive muscle weakness, especially affecting the proximal muscles, is a rare autosomal recessive neuromuscular disorder. Early detection and diagnosing of this disorder is important for management, and the aim of management is to maintain a patient’s quality of life. We present a case report of a 39 year old Malay woman who presented with worsening weakness of proximal muscle since puberty, and underwent extensive investigation for a definitive diagnosis, which turned out to be dysferlinopathy. This case provides an overview of the genetic disorder dysferlinopathy in order to contribute to the limited existing literature and it highlights the importance of multidisciplinary care in the management of this rare disorders.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

ELECTRON J GEN MED, Volume 22, Issue 5, October 2025, Article No: em679

https://doi.org/10.29333/ejgm/16726

Publication date: 01 Sep 2025

Online publication date: 01 Aug 2025

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