RMD
MCID: RPP002
MIFTS: 41

Rippling Muscle Disease (RMD) malady

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

Aliases & Classifications for Rippling Muscle Disease

Aliases & Descriptions for Rippling Muscle Disease:

Name: Rippling Muscle Disease 54 50 25 56 66 13 52 69
Rmd 50 25 66
Rippling Muscle Syndrome 25 29
Rippling Muscle Disease 1 69

Characteristics:

Orphanet epidemiological data:

56
rippling muscle disease
Inheritance: Autosomal dominant,Autosomal recessive;

HPO:

32
rippling muscle disease:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course adult onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 606072
Orphanet 56 ORPHA97238
MESH via Orphanet 43 C535685
UMLS via Orphanet 70 C1853698
ICD10 via Orphanet 34 G71.8

Summaries for Rippling Muscle Disease

NIH Rare Diseases : 50 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 malignant hyperthermia susceptibility and rippling muscle disease with myasthenia gravis, and has symptoms including exercise-induced myalgia, elevated serum creatine phosphokinase and emg abnormality. An important gene associated with Rippling Muscle Disease is CAV3 (Caveolin 3), and among its related pathways/superpathways are Cardiac conduction and Smooth Muscle Contraction. Affiliated tissues include skeletal muscle, testes and breast, and related phenotype is 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 : 54 Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered... (606072) more...

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Rippling Muscle Disease

Diseases in the Rippling Muscle Disease family:

Rippling Muscle Disease 2 Rippling Muscle Disease, 1
Cav3-Related Rippling Muscle Disease

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 malignant hyperthermia susceptibility 29.7 CAV3 DYSF
2 rippling muscle disease with myasthenia gravis 12.2
3 rippling muscle disease 2 12.2
4 rippling muscle disease, 1 12.1
5 cav3-related rippling muscle disease 12.0
6 cumulative trauma disorders 11.2
7 overuse syndrome 11.2
8 repetitive motion disorders 11.2
9 repetitive stress injuries 11.2
10 myasthenia gravis 10.2
11 myelofibrosis 10.1 CAV3 TTN
12 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.1 CAV3 DYSF
13 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 CAV3 DYSF
14 congenital heart defects, multiple types, 3 10.0 DYSF TTN
15 autosomal dominant limb-girdle muscular dystrophy type 1c 10.0 DYSF TTN
16 charcot-marie-tooth disease, type 2b2 10.0 DYSF TTN
17 spinocerebellar ataxia 11 10.0 DYSF TTN
18 muscular dystrophy, rigid spine, 1 10.0 DYSF TTN
19 cerebral angioma 10.0 CAV3 DYSF
20 hypereosinophilic syndrome, idiopathic, resistant to imatinib 10.0 DYSF TTN
21 immunodeficiency 34, mycobacteriosis, x-linked 10.0 CAV3 TTN
22 vulvar eccrine adenocarcinoma 9.9 DYSF TTN
23 long qt syndrome 9 9.9 CAV3 TTN
24 myopathy 9.9
25 esotropia 9.9
26 myopathy, distal, with anterior tibial onset 9.9 CAV3 DYSF TTN
27 lyme disease 9.9 CAV3 DYSF TTN
28 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 CAV3 DYSF TTN
29 spindle cell sarcoma 9.8 CAV3 DYSF TTN
30 central corneal ulcer 9.8 CAV3 DYSF
31 breast cancer 9.8
32 malignant hyperthermia 9.8
33 cardiomyopathy 9.8
34 ptosis 9.8 CAV3 DYSF PPP1R3A
35 creatine phosphokinase, elevated serum 9.3 CAV3 DYSF PPP1R3A RMD1 TTN

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



Diseases related to Rippling Muscle Disease

Symptoms & Phenotypes for Rippling Muscle Disease

Symptoms by clinical synopsis from OMIM:

606072

Clinical features from OMIM:

606072

Human phenotypes related to Rippling Muscle Disease:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 exercise-induced myalgia 32 HP:0003738
2 elevated serum creatine phosphokinase 32 HP:0003236
3 emg abnormality 32 HP:0003457
4 skeletal muscle hypertrophy 32 HP:0003712
5 muscle mounding 32 HP:0003719
6 exercise-induced muscle cramps 32 HP:0003710
7 exercise-induced muscle stiffness 32 HP:0008967
8 muscle hyperirritability 32 HP:0003559
9 percussion-induced rapid rolling muscle contractions 32 HP:0003760

UMLS symptoms related to Rippling Muscle Disease:


exercise-induced myalgia

MGI Mouse Phenotypes related to Rippling Muscle Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CAV3 DYSF PPP1R3A TTN

Drugs & Therapeutics for Rippling Muscle Disease

Search Clinical Trials , NIH Clinical Center for Rippling Muscle Disease

Genetic Tests for Rippling Muscle Disease

Genetic tests related to Rippling Muscle Disease:

id Genetic test Affiliating Genes
1 Rippling Muscle Disease 29

Anatomical Context for Rippling Muscle Disease

MalaCards organs/tissues related to Rippling Muscle Disease:

39
Skeletal Muscle, Testes, Breast

Publications for Rippling Muscle Disease

Articles related to Rippling Muscle Disease:

(show all 48)
id Title Authors Year
1
Immune-mediated rippling muscle disease and myasthenia gravis. ( 27725122 )
2016
2
Autoimmune acquired rippling muscle disease and myasthenia gravis. ( 25534474 )
2015
3
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. ( 22976939 )
2013
4
Elevated serum aminotransferases secondary to rippling muscle disease. ( 23798914 )
2013
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
Electrically active immune-mediated rippling muscle disease preceding breast cancer. ( 22549359 )
2012
7
Rippling is not always electrically silent in rippling muscle disease. ( 21404291 )
2011
8
Bedside diagnosis of rippling muscle disease. ( 21082690 )
2011
9
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. ( 21295981 )
2011
10
Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248- 249. ( 21741357 )
2011
11
Acquired rippling muscle disease in association with myasthenia gravis. ( 20019236 )
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
Immune-mediated rippling muscle disease: another inflammatory myopathy in myasthenia gravis. ( 20625103 )
2010
15
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. ( 19773168 )
2009
16
Acquired rippling muscle disease associated with mild myasthenia gravis: a case report. ( 19277764 )
2009
17
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two. ( 19208478 )
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
Sporadic rippling muscle disease unmasked by simvastatin. ( 16688722 )
2006
24
Rippling muscle disease. ( 16723230 )
2006
25
A new missense mutation in caveolin-3 gene causes rippling muscle disease. ( 16458928 )
2006
26
Identification of skeletal muscle autoantigens by expression library screening using sera from autoimmune rippling muscle disease (ARMD) patients. ( 16598745 )
2006
27
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. ( 15668980 )
2005
28
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. ( 16247063 )
2005
29
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. ( 15742369 )
2005
30
Immune-mediated rippling muscle disease. ( 15668444 )
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
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. ( 12666119 )
2003
34
Caveolin-3 gene mutation in Japanese with rippling muscle disease. ( 12807393 )
2003
35
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. ( 12839838 )
2003
36
Rippling muscle disease: a review. ( 12116294 )
2002
37
Rippling muscle disease in childhood. ( 12269726 )
2002
38
Rippling muscle disease: evidence for phenotypic and genetic heterogeneity. ( 11353417 )
2001
39
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. ( 11431690 )
2001
40
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. ( 11756609 )
2001
41
Severe autosomal recessive rippling muscle disease. ( 11745958 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 CAV3 p.Pro105Leu VAR_001403 rs116840805
2 CAV3 p.Arg27Gln VAR_011512 rs116840778
3 CAV3 p.Ala46Thr VAR_011513 rs116840789
4 CAV3 p.Ala46Val VAR_011514 rs116840773
5 CAV3 p.Asp28Glu VAR_015374 rs116840782
6 CAV3 p.Leu87Pro VAR_016207 rs28936685
7 CAV3 p.Ala93Thr VAR_016208 rs28936686
8 CAV3 p.Ser53Gly VAR_029541 rs116840794

ClinVar genetic disease variations for Rippling Muscle Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642

Expression for Rippling Muscle Disease

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

Pathways for Rippling Muscle Disease

GO Terms for Rippling Muscle Disease

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.16 CAV3 TTN
2 sarcolemma GO:0042383 8.96 CAV3 DYSF
3 T-tubule GO:0030315 8.62 CAV3 DYSF

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane repair GO:0001778 9.16 CAV3 DYSF
2 muscle contraction GO:0006936 9.13 CAV3 DYSF TTN
3 detection of muscle stretch GO:0035995 8.62 CAV3 TTN

Sources for Rippling Muscle Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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