RIPPLING MUSCLE DISEASE 1
General Information (adopted from Orphanet):
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Synonyms, Signs:
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RMD1
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Number of Symptoms
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8
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OrphanetNr:
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OMIM Id:
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600332
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0008967)
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Exercise-induced muscle stiffness |
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6 / 7739
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2
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(HPO:0003719)
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Muscle mounding |
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4 / 7739
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3
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(HPO:0003738)
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Exercise-induced myalgia |
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19 / 7739
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4
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(HPO:0003559)
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Muscle hyperirritability |
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3 / 7739
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5
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(HPO:0003712)
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Skeletal muscle hypertrophy |
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42 / 7739
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6
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(HPO:0003760)
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Percussion-induced rapid rolling muscle contractions |
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3 / 7739
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7
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(OMIM)
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[DEL]Muscle cramps with exercise |
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4 / 7739
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8
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(OMIM)
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Muscle activity is electrically silent on EMG |
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2 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |