RMD
MCID: RPP002
MIFTS: 50

Rippling Muscle Disease (RMD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Rippling Muscle Disease

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Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Rippling Muscle Disease, also known as RMD, is related to myopathy and myasthenia gravis. An important gene associated with Rippling Muscle Disease is CAV3 (caveolin 3). The compounds glucose 6-phosphate and sucrose have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and breast, and related mouse phenotypes are homeostasis/metabolism and muscle.

Description from OMIM:47 600332,606072

Aliases & Classifications for Rippling Muscle Disease

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Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

rippling muscle disease 43 22 21 47 45 49 62
rmd 43 21
rippling muscle syndrome 21


External Ids:

MESH via Orphanet36 C535685
ICD10 via Orphanet26 G71.8
UMLS via Orphanet63 C1853698

Related Diseases for Rippling Muscle Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Rippling Muscle Disease family:

Rippling Muscle Disease, 1 Cav3-Related Rippling Muscle Disease

Diseases related to Rippling Muscle Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.3TTN, CAV3, DYSF, GAA
2myasthenia gravis10.5
3rippling muscle disease with myasthenia gravis10.5
4cumulative trauma disorders10.4
5overuse syndrome10.4
6repetitive motion disorders10.4
7repetitive stress injuries10.4
8rippling muscle disease, 110.4
9esotropia10.3
10cav3-related rippling muscle disease10.3
11malignant hyperthermia10.1
12breast cancer10.1
13malignant hyperthermia susceptibility10.1
14familial hypertrophic cardiomyopathy10.1TTN
15rigid spine syndrome10.1GAA
16limb-girdle muscular dystrophy type 1c10.0DYSF, CAV3
17hypertrophic cardiomyopathy10.0TTN, GAA
18limb-girdle muscular dystrophy type 2h10.0DYSF, TTN
19respiratory failure10.0GAA, TTN
20limb-girdle muscular dystrophy, type 2g10.0DYSF, TTN
21limb-girdle muscular dystrophy type 2e10.0DYSF, TTN
22muscular dystrophy-dystroglycanopathy , type c, 510.0TTN, DYSF
23congenital heart disease10.0TTN, GAA
24limb-girdle muscular dystrophy type 2f10.0DYSF, TTN
25rhabdomyosarcoma10.0CAV3, TTN
26duchenne muscular dystrophy10.0TTN, CAV3, GAA
27myositis10.0DYSF, TTN
28limb-girdle muscular dystrophy, type 1a10.0TTN, CAV3, DYSF
29limb-girdle muscular dystrophy, type 2b10.0DYSF, CAV3, TTN
30calpainopathy10.0TTN, CAV3, DYSF
31limb-girdle muscular dystrophy10.0DYSF, CAV3, TTN
32neuropathy10.0TTN, CAV3, DYSF
33protein s deficiency10.0GAA, DYSF, CAV3
34myopathy congenital9.9TTN, DYSF, GAA
35polymyositis9.9TTN, DYSF, GAA
36distal muscular dystrophy9.9GAA, DYSF, CAV3, TTN
37neuromuscular disease9.9TTN, CAV3, DYSF, GAA
38muscular dystrophy9.9GAA, DYSF, CAV3, TTN
39noonan syndrome9.9GAA, DYSF, CAV3, TTN
40hypertrophy of breast9.9GAA, DYSF, CAV3, TTN

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



Diseases related to rippling muscle disease

Symptoms for Rippling Muscle Disease

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47OMIM
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Symptoms by clinical synopsis from OMIM:

600332

Clinical features from OMIM:

600332,606072

Drugs & Therapeutics for Rippling Muscle Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Rippling Muscle Disease

Search NIH Clinical Center for Rippling Muscle Disease

Genetic Tests for Rippling Muscle Disease

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22GTR
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Genetic tests related to Rippling Muscle Disease:

id Genetic test Affiliating Genes
1 Rippling Muscle Disease22

Anatomical Context for Rippling Muscle Disease

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33MalaCards
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MalaCards organs/tissues related to Rippling Muscle Disease:

33
Skeletal muscle, Breast

Animal Models for Rippling Muscle Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Rippling Muscle Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.6TTN, CAV3, DYSF, GAA, PPP1R3A
2MP:00053697.3GAA, DYSF, CAV3, TTN, PPP1R3A

Publications for Rippling Muscle Disease

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52PubMed
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Articles related to Rippling Muscle Disease:

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

Variations for Rippling Muscle Disease

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Sources:
64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Rippling Muscle Disease:

64
id Symbol AA change Variation ID SNP ID
1CAV3p.Pro105LeuVAR_001403
2CAV3p.Arg27GlnVAR_011512
3CAV3p.Ala46ThrVAR_011513
4CAV3p.Ala46ValVAR_011514
5CAV3p.Asp28GluVAR_015374
6CAV3p.Leu87ProVAR_016207rs28936685
7CAV3p.Ala93ThrVAR_016208rs28936686
8CAV3p.Ser53GlyVAR_029541

Expression for genes affiliated with Rippling Muscle Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rippling Muscle Disease

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

Pathways for genes affiliated with Rippling Muscle Disease

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Compounds for genes affiliated with Rippling Muscle Disease

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Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Rippling Muscle Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate45 2410.6GAA, PPP1R3A
2sucrose45 24 1111.2GAA, CAV3
3gold459.1TTN, GAA
4lipid459.1GAA, CAV3, PPP1R3A
5glucose459.0GAA, CAV3, PPP1R3A
6glycogen45 249.4GAA, CAV3, TTN, PPP1R3A
7creatinine458.2TTN, CAV3, DYSF, GAA

GO Terms for genes affiliated with Rippling Muscle Disease

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16Gene Ontology
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Cellular components related to Rippling Muscle Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.3DYSF, CAV3
2Z discGO:0300189.2CAV3, TTN
3sarcolemmaGO:0423839.1DYSF, CAV3

Biological processes related to Rippling Muscle Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.5GAA, CAV3
2muscle cell cellular homeostasisGO:0467169.4GAA, CAV3
3plasma membrane repairGO:0017789.4DYSF, CAV3
4cardiac muscle contractionGO:0600488.8GAA, TTN

Products for genes affiliated with Rippling Muscle Disease

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Sources for Rippling Muscle Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet