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)
17
(4.0%)		 8639072
 Rippling muscles and myasthenia gravis with rippling muscles.
Ansevin CF, Agamanolis DP.
Arch Neurol. 1996;53(2):197-9.
Diplopia
Biopsy Homo sapiens Male Middle Aged Myasthenia Gravis Myopathy Thymoma Thymus Neoplasms
        

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