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CACNA1S Variant Associated With a Myalgic Myopathy Phenotype
Vesa Periviita1, Johanna Palmio2, Manu Jokela2
1From the Department of Neurology (V.P., P.H.), Kuopio University Hospital; Tampere Neuromuscular Center (J.P., M.J., A.V., B.U.); Tampere University Hospital (J.P.); Tampere University (J.P.); Neurology (M.J.), Clinical Medicine, University of Turku; Neurocenter (M.J.), Turku University Hospital; Folkhälsan Research Center (A.V., B.U.), Helsinki; Medicum (A.V., B.U.), University of Helsinki; Fimlab Laboratories (A.V.), Tampere; Department of Pathology (T.R.), Kuopio University Hospital; and Unit of Pathology (T.R.), Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland. vesa.kari@fimnet.fi.
A rare CACNA1S gene variant causes exercise-induced myalgia and muscle weakness in a Finnish family. This finding helps differentiate myalgic syndromes and identifies a genetic cause for severe myalgia.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Myalgia is a common symptom that can significantly impact quality of life.
- Widespread myalgia can be misdiagnosed as other myalgic syndromes like fibromyalgia.
- A novel myopathy characterized by myalgia was identified in a Finnish family.
Purpose of the Study:
- To characterize the clinical and genetic phenotype of a novel myalgic myopathy.
- To identify the genetic cause of exercise-induced myalgia in a multi-generational Finnish family.
- To investigate the role of CACNA1S gene variants in myopathy.
Main Methods:
- Clinical, neurophysiologic, imaging, and muscle biopsy examinations were performed on affected and unaffected family members.
- Targeted sequencing of known myopathy genes was conducted.
- Genetic analysis identified a specific CACNA1S gene variant (c.2893G>C, p.E965Q).
Main Results:
- A rare CACNA1S gene variant (c.2893G>C, p.E965Q) was identified in the affected family.
- Symptomatic individuals presented with exercise-induced myalgia, cramping, stiffness, fatigue, and progressive muscle weakness.
- Clinical findings included mild ptosis, muscle hypertrophy, and later muscle atrophy; muscle biopsies showed mild myopathic changes with slightly elevated creatine kinase levels.
Conclusions:
- Variants in the CACNA1S gene can be a cause of severe exercise-induced myalgia.
- This study expands the known spectrum of phenotypes associated with CACNA1S gene variants.
- Understanding the genetic basis of myalgia is crucial for accurate diagnosis and management.
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