Annals of Clinical Neurophysiology 2024;26(1):30-33

doi:10.14253/acn.24002

Caveolinopathy pesenting with excercise induced stiffness and transient muscle mounding

Song-Hwa CHAE 1 ; Jin-Hong SHIN ; Dae-Seong KIM

Affiliations

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Country

Republic of Korea

Language

English

Abstract

Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper- CKemia), RMD, and distal myopathy. We report a patient with a CAV3 mutation who presented with myalgia, exercise-induced muscle stiffness, hyperCKemia, and percussion-induced rapid muscle contraction and muscle mounding. A familial genetic study revealed the same mutation in two family members, with physical examinations showing that both of them had rippling muscles.