Rippling muscle disease

Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.



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Total: 21 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 28807458
 Caveolin 3 deficiency myopathy associated with dyslipidemia: Treatment challenges and possible pathophysiological association.
Ibarretxe D, Pelleja J, Ortiz N, Masana L.
J Clin Lipidol. 2017;11(5):1280-1283.
Insulin resistance Myopathy
CAV3
Caveolin 3 Dyslipidemias Homo sapiens Male Middle Aged Missense Mutation Myopathy
1
(17.5%)		 23798914
(3678143)
 Elevated serum aminotransferases secondary to rippling muscle disease.
Nalankilli K, Lubel J.
Case Rep Gastroenterol. 2013;7(2):234-9.
Elevated serum creatine kinase Necrotizing myopathy
1
(17.5%)		 22581547
 Myotonia associated with caveolin-3 mutation.
Milone M, McEvoy KM, Sorenson EJ, Daube JR.
Muscle Nerve. 2012;45(6):897-900.
Cardiomyopathy Myotonia
CAV3
p|SUB|V|57|M;RS#:116840795 rs116840795
Adult Caveolin 3 Electromyography Genetic Predisposition to Disease Homo sapiens Male
1
(17.5%)		 22549359
 Electrically active immune-mediated rippling muscle disease preceding breast cancer.
Liewluck T, Goodman BP, Milone M.
Neurologist. 2012;18(3):155-8.
Muscle stiffness
CAV3
Antineoplastic Agents Caveolin 3 Electricity Electromyography Females Homo sapiens Immunoglobulins Myopathy Neurologic Examination Nicotinic Receptors
1
(17.5%)		 22245016
(3359497)
 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.
Ricci G, Scionti I, Ali G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G.
Neuromuscul Disord. 2012;22(6):534-40.
Myopathy
CAV3 FSHMD1A
p|SUB|T|78|M;RS#:72546668 rs72546668 rs77331749
Alleles Caveolin 3 Heterozygote Homo sapiens Male Middle Aged Muscular Dystrophy, Facioscapulohumeral Myopathy Phenotype
1
(17.5%)		 21404291
 Rippling is not always electrically silent in rippling muscle disease.
Maki T, Matsumoto R, Kohara N, Kondo T, Son I, Mezaki T, Nishino I, Ikeda A, Takahashi R.
Muscle Nerve. 2011;43(4):601-5.
Myopathy
rs116840778 rs121909278
Adult Electromyography Females Homo sapiens Male Middle Aged Myopathy
1
(17.5%)		 19697367
 Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C, Ruscheweyh R, Vorgerd M, Weber MA, Storch-Hagenlocher B, Meinck HM.
Muscle Nerve. 2010;41(1):128-32.
Muscle weakness
CAV3
c|SUB|A|92|T rs28936686
Adult Biopsy Caveolin 3 DNA Mutational Analysis Differential Diagnosis Electromyography Evoked Potentials, Motor Females Homo sapiens Magnetic Resonance Imaging Male Middle Aged Muscle Contraction Mutation Myopathy Phenotype
1
(17.5%)		 17524427
 A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease.
Bae JS, Ki CS, Kim JW, Suh YL, Park MS, Kim BJ, Kim SJ.
J Neurol Sci. 2007;260(1-2):275-8.
Myopathy
c|DEL|307_312|GTGGTG;RS#:199476338 p|DEL|103,104|F;RS#:199476338 rs199476338
Adult Asians Caveolin 3 DNA Mutational Analysis Electromyography Females Gene Deletion Genetic Markers Genetic Predisposition to Disease Genotype Homo sapiens Korea Male Middle Aged Mutation Myopathy Open Reading Frames
1
(17.5%)		 17405141
 A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
Lorenzoni PJ, Scola RH, Vieira N, Vainzof M, Carsten AL, Werneck LC.
Muscle Nerve. 2007;36(2):258-60.
Myopathy
CAV3
c|SUB|A|140|C;RS#:199476327 rs199476327
Caveolin 3 DNA Mutational Analysis Dystrophin Exons Females Homo sapiens Missense Mutation Myopathy
1
(17.5%)		 12807393
 Caveolin-3 gene mutation in Japanese with rippling muscle disease.
Yabe I, Kawashima A, Kikuchi S, Higashi T, Fukazawa T, Hamada T, Sasaki H, Tashiro K.
Acta Neurol Scand. 2003;108(1):47-51.
Muscle weakness
CAV3
p|SUB|R|26|Q rs116840778 rs121909278
Adult Caveolin 3 Caveolins Child Child, Preschool Females Genetic Diseases, Inborn Homo sapiens Japan Male Middle Aged Muscle Contraction Mutation Myopathy
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0003198 Myopathy 5
HP:0003719 Muscle mounding 3
HP:0001638 Cardiomyopathy 2
HP:0000565 Esotropia 1
HP:0001324 Muscle weakness 1
HP:0003124 Hypercholesterolemia 1
HP:0003236 Elevated serum creatine kinase 1
HP:0003552 Muscle stiffness 1
HP:0003756 Skeletal myopathy 1
HP:0040083 Toe walking 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
CAV3 caveolin 3 859