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Diseases

Genetic and Rare Diseases Information Center (GARD)

Rippling muscle disease


Other Names for this Disease
  • RMD
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Overview

Rippling muscle disease is a rare condition that primarily affects the muscles. Signs and symptoms of the condition generally begin during late childhood or adolescence, although the age of onset can vary widely. 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. Rippling muscle disease is caused by changes (mutations) in the CAV3 gene and is inherited in an autosomal dominant manner.[1][2][3] Treatment is supportive and based on the signs and symptoms present in each person.[2]
Last updated: 2/17/2016

References

  1. Rippling muscle disease. Genetics Home Reference. May 2014; http://ghr.nlm.nih.gov/condition/rippling-muscle-disease.
  2. Claudio Bruno, MD, Federica Sotgia, PhD, Elisabetta Gazzerro, MD, Carlo Minetti, MD, and Michael P Lisanti, MD, PhD. Caveolinopathies. GeneReviews. September 2012; http://www.ncbi.nlm.nih.gov/books/NBK1385/.
  3. RIPPLING MUSCLE DISEASE. OMIM. April 2012; http://www.omim.org/entry/606072.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rippling muscle disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • RMD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.