MCID: RPP002
MIFTS: 41

Rippling Muscle Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Rippling Muscle Disease

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Rippling Muscle Disease:

Name: Rippling Muscle Disease 52 11 48 25 54 70 12 50 13 68
Rmd 48 25 70
 
Rippling Muscle Syndrome 25 27
Rippling Muscle Disease 1 68

Characteristics:

Orphanet epidemiological data:

54
rippling muscle disease:
Inheritance: Autosomal dominant,Autosomal recessive

HPO:

64
rippling muscle disease:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM52 606072
Disease Ontology11 DOID:0060255
Orphanet54 ORPHA97238
MESH via Orphanet40 C535685
UMLS via Orphanet69 C1853698
ICD10 via Orphanet31 G71.8

Summaries for Rippling Muscle Disease

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NIH Rare Diseases:48 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. Rippling muscle disease can be caused by changes (mutations) in the CAV3 gene. Inheritance is usually autosomal dominant, but can be autosomal recessive. 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. Last updated: 12/14/2016

MalaCards based summary: Rippling Muscle Disease, also known as rmd, is related to rippling muscle disease with myasthenia gravis and rippling muscle disease, 1, and has symptoms including elevated serum creatine phosphokinase, emg abnormality and muscle hyperirritability. An important gene associated with Rippling Muscle Disease is CAV3 (Caveolin 3), and among its related pathways are Smooth Muscle Contraction and Cardiac conduction. Affiliated tissues include skeletal muscle and testes, and related mouse phenotype muscle.

Disease Ontology:11 A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.

UniProtKB/Swiss-Prot:70 Rippling muscle disease: Rare disorder characterized by mechanically triggered contractions of skeletal muscle. In RMD, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle.

Genetics Home Reference:25 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.

OMIM:52 Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered... (606072) more...

Related Diseases for Rippling Muscle Disease

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Graphical network of the top 20 diseases related to Rippling Muscle Disease:



Diseases related to rippling muscle disease

Symptoms & Phenotypes for Rippling Muscle Disease

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Symptoms by clinical synopsis from OMIM:

606072

Clinical features from OMIM:

606072

Human phenotypes related to Rippling Muscle Disease:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase64 HP:0003236
2 emg abnormality64 HP:0003457
3 muscle hyperirritability64 HP:0003559
4 exercise-induced muscle cramps64 HP:0003710
5 skeletal muscle hypertrophy64 HP:0003712
6 muscle mounding64 HP:0003719
7 exercise-induced myalgia64 HP:0003738
8 percussion-induced rapid rolling muscle contractions64 HP:0003760
9 exercise-induced muscle stiffness64 HP:0008967

UMLS symptoms related to Rippling Muscle Disease:


exercise-induced myalgia

MGI Mouse Phenotypes related to Rippling Muscle Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1CAV3, DYSF, PPP1R3A, TTN

Drugs & Therapeutics for Rippling Muscle Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Rippling Muscle Disease

Genetic Tests for Rippling Muscle Disease

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Genetic tests related to Rippling Muscle Disease:

id Genetic test Affiliating Genes
1 Rippling Muscle Disease27

Anatomical Context for Rippling Muscle Disease

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MalaCards organs/tissues related to Rippling Muscle Disease:

36
Skeletal muscle, Testes

Publications for Rippling Muscle Disease

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Articles related to Rippling Muscle Disease:

(show all 48)
idTitleAuthorsYear
1
Immune-mediated rippling muscle disease and myasthenia gravis. (27725122)
2016
2
Autoimmune acquired rippling muscle disease and myasthenia gravis. (25534474)
2015
3
Elevated serum aminotransferases secondary to rippling muscle disease. (23798914)
2013
4
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. (22976939)
2013
5
Electrically active immune-mediated rippling muscle disease preceding breast cancer. (22549359)
2012
6
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. (22245016)
2012
7
Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248- 249. (21741357)
2011
8
Rippling is not always electrically silent in rippling muscle disease. (21404291)
2011
9
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. (21295981)
2011
10
Bedside diagnosis of rippling muscle disease. (21082690)
2011
11
Immune-mediated rippling muscle disease: another inflammatory myopathy in myasthenia gravis. (20625103)
2010
12
Acquired rippling muscle disease in association with myasthenia gravis. (20019236)
2010
13
Rippling muscle disease: variable phenotype in a family with five afflicted members. (19697367)
2010
14
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. (20229577)
2010
15
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two. (19208478)
2009
16
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. (19773168)
2009
17
Acquired rippling muscle disease associated with mild myasthenia gravis: a case report. (19277764)
2009
18
Thought ripples on muscle waves: recognition of rippling muscle disease. (18671188)
2008
19
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. (18487559)
2008
20
A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease. (17524427)
2007
21
A novel missense mutation in the caveolin-3 gene in rippling muscle disease. (17405141)
2007
22
Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. (17537631)
2007
23
Identification of skeletal muscle autoantigens by expression library screening using sera from autoimmune rippling muscle disease (ARMD) patients. (16598745)
2006
24
Sporadic rippling muscle disease unmasked by simvastatin. (16688722)
2006
25
A new missense mutation in caveolin-3 gene causes rippling muscle disease. (16458928)
2006
26
Rippling muscle disease. (16723230)
2006
27
Immune-mediated rippling muscle disease. (15668444)
2005
28
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. (16247063)
2005
29
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. (15668980)
2005
30
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. (15742369)
2005
31
Acquired rippling muscle disease with myasthenia gravis. (14694511)
2004
32
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. (15314133)
2004
33
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. (12839838)
2003
34
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. (12666119)
2003
35
Caveolin-3 gene mutation in Japanese with rippling muscle disease. (12807393)
2003
36
Rippling muscle disease in childhood. (12269726)
2002
37
Rippling muscle disease: a review. (12116294)
2002
38
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. (11756609)
2001
39
Severe autosomal recessive rippling muscle disease. (11745958)
2001
40
Rippling muscle disease: evidence for phenotypic and genetic heterogeneity. (11353417)
2001
41
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. (11431690)
2001
42
Phenotypic variability in rippling muscle disease. (10636178)
2000
43
Phenotypic variability in rippling muscle disease. (10227634)
1999
44
Physical mapping of the rippling muscle disease locus. (10049580)
1999
45
Rippling muscle disease and intermittent esotropia. (9093967)
1997
46
Intermittent esotropia associated with rippling muscle disease. (8574358)
1995
47
A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. (7936247)
1994
48
Rippling muscle disease. (2705900)
1989

Variations for Rippling Muscle Disease

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UniProtKB/Swiss-Prot genetic disease variations for Rippling Muscle Disease:

70
id Symbol AA change Variation ID SNP ID
1CAV3p.Pro105LeuVAR_001403rs116840805
2CAV3p.Arg27GlnVAR_011512rs116840778
3CAV3p.Ala46ThrVAR_011513rs116840789
4CAV3p.Ala46ValVAR_011514rs116840773
5CAV3p.Asp28GluVAR_015374rs116840782
6CAV3p.Leu87ProVAR_016207rs28936685
7CAV3p.Ala93ThrVAR_016208rs28936686
8CAV3p.Ser53GlyVAR_029541rs116840794

Clinvar genetic disease variations for Rippling Muscle Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CAV3NM_033337.2(CAV3): c.80G> A (p.Arg27Gln)SNVPathogenicrs116840778GRCh37Chr 3, 8775642: 8775642

Expression for genes affiliated with Rippling Muscle Disease

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Search GEO for disease gene expression data for Rippling Muscle Disease.

Pathways for genes affiliated with Rippling Muscle Disease

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GO Terms for genes affiliated with Rippling Muscle Disease

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Cellular components related to Rippling Muscle Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:004238310.1CAV3, DYSF
2T-tubuleGO:003031510.0CAV3, DYSF
3Z discGO:00300189.2CAV3, TTN

Biological processes related to Rippling Muscle Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1detection of muscle stretchGO:00359959.7CAV3, TTN
2plasma membrane repairGO:00017789.5CAV3, DYSF
3muscle contractionGO:00069368.9CAV3, DYSF, TTN

Sources for Rippling Muscle Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet