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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.
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, neurophysiologic, 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.
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