CACNA1S Variant Associated with a Myalgic Myopathy Phenotype

Vesa Periviita, Johanna Palmio, Manu Jokela, Paivi Hartikainen, Anna Vihola, Tuomas Rauramaa, Bjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Abstract

Background and ObjectivesThis study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family.MethodsFour symptomatic and 3 asymptomatic individuals from 2 generations underwent clinical, neurophysiologic, imaging, and muscle biopsy examinations. Targeted sequencing of all known myopathy genes was performed.ResultsA 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.DiscussionMyalgia 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.

Original languageEnglish
JournalNeurology
Volume101
Issue number18
Pages (from-to)E1779-E1786
Number of pages8
ISSN0028-3878
DOIs
Publication statusPublished - 31 Oct 2023
MoE publication typeA1 Journal article-refereed

Bibliographical note

Publisher Copyright:
© American Academy of Neurology.

Fields of Science

  • 3112 Neurosciences

Cite this