Rippling muscle disease

From WikiMD.com - Food, Medicine & Wellness Encyclopedia

Alternate names[edit | edit source]

RMD

Definition[edit | edit source]

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[edit | edit source]

  • 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[edit | edit source]

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

Onset[edit | edit source]

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

Signs and symptoms[edit | edit source]

  • 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[edit | edit source]

  • 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. [1][1].
  • Sequence analysis identifies pathogenic variants in more than 99% of affected individuals.

Treatment[edit | edit source]

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

References[edit | edit source]

  1. 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/

NIH genetic and rare disease info[edit source]

Rippling muscle disease is a rare disease.


This article is a stub.

You can help WikiMD by registering to expand it.
Editing is available only to registered and verified users.
WikiMD is a comprehensive, free health & wellness encyclopedia.

WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Transform your life with W8MD's budget GLP1 injections in NYC from $125 and up biweekly

W8mdlogo.png
W8MD weight loss doctors team

W8MD offers a medical weight loss program NYC and a clinic to lose weight in Philadelphia. Our W8MD's physician supervised medical weight loss centers in NYC provides expert medical guidance, and offers telemedicine options for convenience.

Why choose W8MD?

Book Your Appointment

Start your NYC weight loss journey today at our NYC medical weight loss, and Philadelphia and visit Philadelphia medical weight loss Call (718)946-5500 for NY and 215 676 2334 for PA

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's NYC physician weight loss.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available. Call 718 946 5500.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Contributors: Deepika vegiraju