Ann Clin Neurophysiol.  2024 Apr;26(1):30-33. 10.14253/acn.24002.

Caveolinopathy pesenting with excercise induced stiffness and transient muscle mounding

• Chae SH
• Shin JH
• Kim DS

• KMID: 2554852
• DOI: http://doi.org/10.14253/acn.24002

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.

Keyword

Caveolin 3; Creatine kinase; Myalgia; Caveolin 3; Creatine kinase; Myalgia

Figure

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  Fig. 1. Physical findings of the patient. The patient had bilateral calf hypertrophy (A), but no facial dysmorphism such as a myopathic face or higharched palate (B). Percussion of the hypothenar muscle with a reflex hammer produced focal muscle mounding (C) that disappeared within a few seconds (D).

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  Fig. 2. Muscle biopsy taken from biceps muscle showed slightly increased numbers of internal nuclei, a few regenerating fibers, and mild muscle fiber size variation. (A) Hematoxylin and eosin statin (×200). (B) Hematoxylin and eosin statin (×400). (C) Modified Gomori-Trichrome stain (×200). (D) Adenosine triphosphatase stain at ph 10.6 (×200). The black bars represent 50 μm.

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