Rippling muscle disease
Other Names for this Disease
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unusual gait. Rippling muscle disease is caused by changes (mutations) in the CAV3 gene and is inherited in an autosomal dominant manner. Treatment is supportive and based on the signs and symptoms present in each person.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
Last updated: 2/17/2016
- Rippling muscle disease. Genetics Home Reference. May 2014; http://ghr.nlm.nih.gov/condition/rippling-muscle-disease.
- 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/.
- RIPPLING MUSCLE DISEASE. OMIM. April 2012; http://www.omim.org/entry/606072.
- Genetics Home Reference (GHR) contains information on Rippling muscle disease. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.