Rippling muscle disease

Title

Other Names:

RMD

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Rippling muscle disease (RMD) is a rare condition that primarily affects the muscles. It belongs to a group of conditions known as caveolinopathies. 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. Treatment is said to be supportive and based on the signs and symptoms present in each person.^[1]^[2]^[3]

Rippling muscle disease can be caused by changes (mutations) in the CAV3 gene. Inheritance is usually autosomal dominant, but can be autosomal recessive.^[2]^[1]^[3] 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.^[2]^[1]

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.^[4]

Last updated: 12/14/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 11 |

Medical Terms	Other Names	Learn More: HPO ID
30%-79% of people have these symptoms
Adult onset	Symptoms begin in adulthood	0003581
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Elevated serum creatine phosphokinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine kinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
EMG abnormality		0003457
Exercise-induced muscle cramps	Exercise-induced muscle cramping Muscle cramps following exercise Muscle cramps on exercise Muscle cramps on exertion Muscle cramps with exertion [ more ]	0003710
Exercise-induced muscle stiffness	Muscle stiffness with exercise Muscle stiffness, exercise-induced [ more ]	0008967
Exercise-induced myalgia	Exercise-induced muscle pain Muscle pain on exercise Muscle pain with exercise Muscle pain, exercise-induced [ more ]	0003738
Muscle hyperirritability		0003559
Muscle mounding		0003719
Percussion-induced rapid rolling muscle contractions		0003760
Skeletal muscle hypertrophy	Increased skeletal muscle cells	0003712

Showing of 11 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

There is currently no specific treatment for rippling muscle disease (RMD). Management is said to be supportive and based on the symptoms present in each person. In some cases, symptoms overlap with those of other caveolinopathies. Depending on specific symptoms and severity, management may include:

Weight control to avoid obesity
Physical therapy and stretching exercises to promote mobility and prevent contractures
Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility
Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders^[1]

Only case reports from the 1980s report the benefit of dantrolene (a muscle relaxant)and calcium channel antagonists in two patients.^[5] However, we are unaware of any current, well-documented treatment options.

For people with immune-mediated RMD associated with myasthenia gravis (an acquired, autoimmune form of RMD), immunosuppressive therapy has reportedly been effective in improving the symptoms of both conditions. For this reason, it is important to recognize when RMD and myasthenia gravis occur together.^[6]

Last updated: 12/15/2016

Prognosis Prognosis

To our knowledge, there is limited information in the medical literature about the long-term outlook associated with rippling muscle disease (RMD). While it has been described as a generally benign, non-progressive condition with relatively mild symptoms,^[7] muscle cramping or stiffness may be painful.^[6] People with autosomal recessive RMD (who have 2 gene mutations) may be more severely affected. Additionally, because some people with RMD also have features of other caveolinopathies (which may be more severe), the outlook may depend on the specific symptoms present. We are not aware of reports noting shortened life expectancy in individuals with RMD.

Last updated: 12/14/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 800-572-1717
TTY: 1-800-572-1717
E-mail: mda@mdausa.org
Website: http://www.mdausa.org/
Muscular Dystrophy Family Foundation
P.O. Box 776
Carmel, IN 46082
Toll-free: 800-544-1213
Telephone: 317-615-9140
E-mail: http://mdff.org/contact-us/
Website: http://www.mdff.org
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: info@musculardystrophyuk.org
Website: http://www.musculardystrophyuk.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Rippling muscle disease. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

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. Genetics Home Reference. May 2014; http://ghr.nlm.nih.gov/condition/rippling-muscle-disease.
RIPPLING MUSCLE DISEASE. OMIM. April 2012; http://www.omim.org/entry/606072.
Breker, Dane A; Little, Ann A; Trobe, Jonathan D. Autoimmune Acquired Rippling Muscle Disease and Myasthenia Gravis. Journal of Neuro-Ophthalmology. March, 2015; 35(1):98-99.
Roberts HL, Day B, Lo H, McLean C, North K. Rippling muscle disease. J Clin Neurosci. June, 2006; 13(5):576-578.
Bettini M, et al. Immune-mediated rippling muscle disease and myasthenia gravis. J Neuroimmunol. October 15, 2016; 299:59-61.
Torbergsen T. Rippling muscle disease: a review. Muscle Nerve Suppl. 2002; 11:S103-107.