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Disease Profile

Rippling muscle disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Elderly

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ICD-10

G71.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

RMD

Categories

Congenital and Genetic Diseases; Nervous System Diseases

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]

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.

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 kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
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

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

    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]

    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 Providing General Support

      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

        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.

          References

          1. Claudio Bruno, MD, Federica Sotgia, PhD, Elisabetta Gazzerro, MD, Carlo Minetti, MD, and Michael P Lisanti, MD, PhD. Caveolinopathies. GeneReviews. September 2012; https://www.ncbi.nlm.nih.gov/books/NBK1385/.
          2. Rippling muscle disease. Genetics Home Reference. May 2014; https://ghr.nlm.nih.gov/condition/rippling-muscle-disease.
          3. RIPPLING MUSCLE DISEASE. OMIM. April 2012; https://www.omim.org/entry/606072.
          4. 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.
          5. Roberts HL, Day B, Lo H, McLean C, North K. Rippling muscle disease. J Clin Neurosci. June, 2006; 13(5):576-578.
          6. Bettini M, et al. Immune-mediated rippling muscle disease and myasthenia gravis. J Neuroimmunol. October 15, 2016; 299:59-61.
          7. Torbergsen T. Rippling muscle disease: a review. Muscle Nerve Suppl. 2002; 11:S103-107.

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