Rippling muscle disease
Last updated 1 Mar 2023
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
Rippling muscle disease is a 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. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful.
Description
Rippling muscle disease is a 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. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful.
People with rippling muscle disease may have overgrowth (hypertrophy) of some muscles, especially in the calf. Some affected individuals have an abnormal pattern of walking (gait), such as walking on tiptoe. They may experience fatigue, cramps, or muscle stiffness, especially after exercise or in cold temperatures.
The age of onset of rippling muscle disease varies widely, but it often begins in late childhood or adolescence. Rippling muscles may also occur as a feature of other muscle disorders such as limb-girdle muscular dystrophy.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Rippling muscle syndrome
RMD
Related patient information and medicines
Patient information leaflet
Muscle weakness
This leaflet looks at types of muscle weakness and discusses the wide range of problems which can cause them. Muscle weakness is a common complaint but the word weakness can mean different things to different people - including tiredness, reduced power and failure to work at all. What is muscle weakness. The term muscle weakness can be used to.
Patient information leaflet
Parkinson's disease
The main symptoms of Parkinson's disease are usually stiffness, shaking (tremor), and slowness of movement. People with Parkinson's may also develop other symptoms (listed below). What is Parkinson's disease. Parkinson's disease is a progressive neurological degeneration of certain cells (called dopaminergic cells) within a specific part of the.
Patient information leaflet
Sever's disease
Sever's disease (sometimes called calcaneal apophysitis) causes pain in the heel. It is more common in children who are regularly involved in high impact sport activities such as running and jumping. It can usually be treated with rest, wearing supportive footwear for sports, and sh... What is Sever's disease. Sever's disease (also called c.
Patient information leaflet
Huntington's disease
Huntington's disease is a genetically inherited condition that causes parts of the brain and nervous system to stop working properly over time. It is a slowly progressive condition that interferes with the movements of your body, thinking and judgement, and can lead to a change in your behaviour. The symptoms occur because of damage and death of.
Patient information leaflet
Bornholm disease
Bornholm disease is an illness which causes flu-like symptoms, together with pain in the chest or tummy (abdomen). It usually lasts for only a few days. Complications rarely occur. This is why pain from the chest wall is often the main symptom. The name Bornholm disease was given by a Danish doctor, Sylvest, who observed the illness on the island.
Patient information leaflet
Muscle relaxants
Muscle relaxants are medicines that help the muscles to relax, which may also reduce pain and discomfort. Muscle spasms and tightness may also follow long-term injuries to the head or back. Muscle spasm can also occur as part of a more short-term condition or injury, such as low back pain or whiplash. What are muscle relaxants. Muscle relaxants.
Further reading and references
- Rippling muscle disease; MedlinePlus, National Library of Medicine.
- Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25.
- Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee YA, Nothen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet. 2001 Jul;28(3):218-9. doi: 10.1038/90050.
- Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol. 2011;101:135-42. doi: 10.1016/B978-0-08-045031-5.00010-4.
- Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010 Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8.
- Kubisch C, Schoser BG, von During M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmuller H, Schroder JM, Bruning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501.
- Lamb GD. Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. Muscle Nerve. 2005 May;31(5):652-8. doi: 10.1002/mus.20307.
- Traverso M, Bruno C, Broccolini A, Sotgia F, Donati MA, Assereto S, Gazzerro E, Lo Monaco M, Modoni A, D'Amico A, Gasperini S, Ricci E, Zara F, Lisanti M, Minetti C. Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):735-7. doi: 10.1136/jnnp.2007.133207. No abstract available.
- Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S. Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Hum Mutat. 2011 Mar;32(3):309-17. doi: 10.1002/humu.21431. Epub 2011 Feb 3.
- Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology. 2004 Feb 24;62(4):538-43. doi: 10.1212/wnl.62.4.538.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.