A1 Refereed original research article in a scientific journal
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype
Authors: Periviita Vesa, Palmio Johanna, Jokela Manu, Hartikainen Päivi, Vihola Anna, Rauramaa Tuomas, Udd Bjarne
Publication year: 2023
Journal: Neurology
Journal name in source: Neurology
Journal acronym: Neurology
Volume: 101
Issue: 18
First page : e1779
Last page: e1786
ISSN: 0028-3878
eISSN: 1526-632X
DOI: https://doi.org/10.1212/WNL.0000000000207639(external)
Web address : https://doi.org/10.1212/WNL.0000000000207639(external)
Background and Objectives
This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family.
Methods
Four symptomatic and 3 asymptomatic individuals from 2 generations underwent clinical, europhysiologic, imaging, and muscle biopsy examinations. Targeted sequencing of all known myopathy genes was performed.
Results
A very rare CACNA1S gene variant c.2893G>C (p.E965Q) was identified in the family. The symptomatic patients presented with exercise-induced myalgia, cramping, muscle stiffness, and fatigue and eventually developed muscle weakness. Examinations revealed mild ptosis and unusual muscle hypertrophy in the upper limbs. In the most advanced disease stage, muscle weakness and muscle atrophy of the limbs were evident. In some patients, muscle biopsy showed mild myopathic findings and creatine kinase levels were slightly elevated.
Discussion
Myalgia is a very common symptom affecting quality of life. Widespread myalgia may be confused with other myalgic syndromes such as fibromyalgia. In this study, we show that variants in CACNA1S gene may be one cause of severe exercise-induced myalgia.