Rippling muscle disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 9 |
| OrphanetNr: | 97238 |
| OMIM Id: |
600332
606072 |
| ICD-10: |
G71.8 |
| UMLs: |
C1853698 |
| MeSH: |
C535685 |
| MedDRA: |
10069417 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-dystrophic myopathy
-Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of caveolin-3 -Rare genetic disease |
Symptom Information:
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(HPO:0003760) | Percussion-induced rapid rolling muscle contractions | 3 / 7739 | ||||
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(HPO:0003712) | Skeletal muscle hypertrophy | 42 / 7739 | ||||
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(HPO:0003559) | Muscle hyperirritability | 3 / 7739 | ||||
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(HPO:0003719) | Muscle mounding | 4 / 7739 | ||||
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(HPO:0003738) | Exercise-induced myalgia | 19 / 7739 | ||||
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(HPO:0008967) | Exercise-induced muscle stiffness | 6 / 7739 | ||||
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(HPO:0003457) | EMG abnormality | 78 / 7739 | ||||
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(HPO:0003710) | Exercise-induced muscle cramps | 11 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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