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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Narrow down the case reports



Total: 21 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 12269726
 Rippling muscle disease in childhood.
Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W.
J Child Neurol. 2002;17(7):483-90.
Muscle weakness
CAV3
rs116840778
Caveolin 3 Caveolins Child Child, Preschool Creatine Kinase Females Homo sapiens Infant Male Microscopy, Fluorescence Mutation Myopathy Physical Stimulation Western Blotting
1
(17.5%)		 11745958
 Severe autosomal recessive rippling muscle disease.
Koul RL, Chand RP, Chacko A, Ali M, Brown KM, Bushnarmuth SR, Escolar DM, Stephan DA.
Muscle Nerve. 2001;24(11):1542-7.
Cardiomyopathy Skeletal myopathy
Cardiac Arrhythmia Electrocardiography Fatal Outcome Females Genes, Recessive Homo sapiens Male Myopathy Phenotype
1
(17.5%)		 11353417
 Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.
So YT, Zu L, Barraza C, Figueroa KP, Pulst SM.
Muscle Nerve. 2001;24(3):340-4.
Myalgia Muscle stiffness
rs116840778
Adult Child Chromosomes, Human, Pair 1 Females Genetic Heterogeneity Homo sapiens Male Middle Aged Myopathy Phenotype
1
(17.5%)		 10227634
 Phenotypic variability in rippling muscle disease.
Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W.
Neurology. 1999;52(7):1453-9.
Irritability Muscle stiffness
rs116840778 rs116840789 rs121909278
Adult Child Child, Preschool Chromosomes, Human, Pair 1 Females Homo sapiens Male Middle Aged Muscle Tissue Myopathy Phenotype
1
(17.5%)		 8574358
 Intermittent esotropia associated with rippling muscle disease.
Kosmorsky GS, Mehta N, Mitsumoto H, Prayson R.
J Neuroophthalmol. 1995;15(3):147-51.
Esotropia Myopathy
Biopsy Diplopia Electromyography Esotropia Homo sapiens Male Middle Aged Myopathy Myositis Visual Acuity
1
(17.5%)		 2705900
 Rippling muscle disease.
Ricker K, Moxley RT, Rohkamm R.
Arch Neurol. 1989;46(4):405-8.
Myopathy
rs116840773 rs116840805
Adult Creatine Kinase Electromyography Heart Function Tests Hematologic Tests Homo sapiens Isometric Contraction Male Middle Aged Muscle Tissue Myopathy Thyroid Function Tests
17
(4.0%)		 26947586
 Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.
Chen J, Zeng W, Han C, Wu J, Zhang H, Tong X.
Neuropathology. 2016;36(5):485-489.
Cardiomyopathy
CAV3
c|SUB|G|136|A;RS#:116840789 p|SUB|A|46|T;RS#:116840789 rs116840789
Adult Asians Caveolin 3 Distal Muscular Dystrophies Females Heterozygote Homo sapiens Lower Extremity Mutation Phenotype
17
(4.0%)		 16688722
 Sporadic rippling muscle disease unmasked by simvastatin.
Baker SK, Tarnopolsky MA.
Muscle Nerve. 2006;34(4):478-81.
Hypercholesterolemia
Anticholesteremic Agents Caveolin 3 Dysferlin Homeostasis Homo sapiens Hypercholesterolemia Male Membrane Proteins Middle Aged Muscle Contraction Muscle Proteins Myasthenia Gravis Myopathy
17
(4.0%)		 16247063
 Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
Madrid RE, Kubisch C, Hays AP.
Neurology. 2005;65(8):1301-3.
Toe walking
c|SUB|G|136|A;RS#:116840789 rs116840793
Adult Caveolae Caveolin 3 Child DNA Mutational Analysis Exons Gait Disorders, Neurologic Genes, Dominant Genetic Predisposition to Disease Homo sapiens Immunohistochemistry Male Mutation Myopathy Point Mutation Skeletal Myocytes Transmission Electron Microscopy
17
(4.0%)		 10619721
 Immunosuppressive treatment of rippling muscles in patients with myasthenia gravis.
Muller-Felber W, Ansevin CF, Ricker K, Muller-Jenssen A, Topfer M, Goebel HH, Pongratz DE.
Neuromuscul Disord. 1999;9(8):604-7.
Asthma
Adult Homo sapiens Immunosuppressive Agents Male Middle Aged Muscle Contraction Myasthenia Gravis Myopathy Physical Stimulation
        

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