Rippling muscle disease

Alternate names

RMD

Definition

Rippling muscle disease (RMD) is a rare condition that primarily affects the muscles. It belongs to a group of conditions known as caveolinopathies. In this condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs.

Cause

• Rippling muscle disease can be caused by changes (mutations) in the CAV3 gene.
• In addition to RMD, CAV3 gene mutations can cause features of the other caveolinopathies, even within the same family.
• The other caveolinopathies are: limb-girdle muscular dystrophy 1C, isolated hyperCKemia, CAV3-related distal myopathy, and hypertrophic cardiomyopathy.
• There have also been reported cases of an acquired, autoimmune form of RMD that occurs concurrently with myasthenia gravis.
• In this form, there is no family history of RMD and CAV3 testing is negative.

Inheritance

Inheritance is usually autosomal dominant, but can be autosomal recessive.

Onset

Signs and symptoms of the condition generally begin during late childhood or adolescence, although the age of onset can vary widely.

Signs and symptoms

• It is characterized by signs of increased muscle irritability, including percussion-induced rapid contractions (repetitive tensing of the muscle), percussion-induced muscle mounding ("bunching up" of the muscle), and/or visible rippling of the muscles.
• Fatigue, cramps, and/or muscle stiffness are common, especially after strenuous activity or exposure to cold temperatures.
• Some affected people may also have hypertrophy (overgrowth) of some muscles and an unusual gait.

Diagnosis

• CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo, is the only gene in which pathogenic variants are known to cause caveolinopathies. <ref>Bruno C, Sotgia F, Gazzerro E, et al. Caveolinopathies – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 May 14 [Updated 2012 Sep 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1385/</ref>[1].
• Sequence analysis identifies pathogenic variants in more than 99% of affected individuals.

Treatment

Treatment is said to be supportive and based on the signs and symptoms present in each person.

References

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NIH genetic and rare disease info

• NIH info on Rippling muscle disease

Rippling muscle disease is a rare disease.

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