MCID: RPP002
MIFTS: 42

Rippling Muscle Disease malady

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

Aliases & Classifications for Rippling Muscle Disease

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rippling Muscle Disease:

Name: Rippling Muscle Disease 49 10 11 45 23 47 12 51 67 65
Rmd 45 23 67
 
Rippling Muscle Syndrome 23 24
Rippling Muscle Disease 1 65

Characteristics:

HPO:

61
rippling muscle disease:
Onset and clinical course: adult onset
Inheritance: autosomal dominant inheritance
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 606072
Disease Ontology10 DOID:0060255
Orphanet51 97238
ICD10 via Orphanet28 G71.8
MESH via Orphanet37 C535685
UMLS via Orphanet66 C1853698
UMLS65 C1853698, C1838254

Summaries for Rippling Muscle Disease

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NIH Rare Diseases:45 Rippling muscle disease is a rare condition that primarily affects the muscles. 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. rippling muscle disease is caused by changes (mutations) in the cav3 gene and is inherited in an autosomal dominant manner. treatment is supportive and based on the signs and symptoms present in each person. last updated: 2/17/2016

MalaCards based summary: Rippling Muscle Disease, also known as rmd, is related to myasthenia gravis and rippling muscle disease with myasthenia gravis, and has symptoms including exercise-induced muscle stiffness, percussion-induced rapid rolling muscle contractions (pirc) and exercise-induced myalgia. An important gene associated with Rippling Muscle Disease is CAV3 (Caveolin 3), and among its related pathways are Insulin Signaling and mTOR Pathway. Affiliated tissues include skeletal muscle, prostate and breast.

Disease Ontology:10 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:67 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:23 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:49 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 for Rippling Muscle Disease

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Symptoms by clinical synopsis from OMIM:

606072

Clinical features from OMIM:

606072

HPO human phenotypes related to Rippling Muscle Disease:

(show all 9)
id Description Frequency HPO Source Accession
1 exercise-induced muscle stiffness HP:0008967
2 percussion-induced rapid rolling muscle contractions (pirc) HP:0003760
3 exercise-induced myalgia HP:0003738
4 muscle mounding HP:0003719
5 skeletal muscle hypertrophy HP:0003712
6 exercise-induced muscle cramps HP:0003710
7 muscle hyperirritability HP:0003559
8 emg abnormality HP:0003457
9 elevated serum creatine phosphokinase HP:0003236

UMLS symptoms related to Rippling Muscle Disease:


exercise-induced myalgia

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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Anatomical Context for Rippling Muscle Disease

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MalaCards organs/tissues related to Rippling Muscle Disease:

33
Skeletal muscle, Prostate, Breast, Endothelial, Neutrophil, B cells, Testes

Animal Models for Rippling Muscle Disease or affiliated genes

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MGI Mouse Phenotypes related to Rippling Muscle Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Rippling Muscle Disease

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Articles related to Rippling Muscle Disease:

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

Variations for Rippling Muscle Disease

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

67
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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Search GEO for disease gene expression data for Rippling Muscle Disease.

Pathways for genes affiliated with Rippling Muscle Disease

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Pathways related to Rippling Muscle Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4GSK3B, PPP1R3A
2
Show member pathways
9.4GSK3B, PPP1R3A
39.4GSK3B, PPP1R3A

GO Terms for genes affiliated with Rippling Muscle Disease

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of nitric-oxide synthase activityGO:00510019.8CAV3, GSK3B
2myotube differentiationGO:00149029.8CAV3, GSK3B
3negative regulation of MAP kinase activityGO:00434079.6CAV3, GSK3B
4myoblast fusionGO:00075209.5CAV3, GSK3B
5muscle contractionGO:00069369.1CAV3, TTN

Sources for Rippling Muscle Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet