MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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9
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OrphanetNr:
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OMIM Id:
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160990
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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:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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2
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(HPO:0003394)
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Muscle cramps |
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106 / 7739
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3
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(HPO:0010548)
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Percussion myotonia |
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5 / 7739
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4
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(HPO:0003552)
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Muscle stiffness |
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23 / 7739
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5
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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6
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(OMIM)
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Posteffort muscle tightness |
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1 / 7739
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7
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(OMIM)
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No weak or wasted skeletal muscles |
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1 / 7739
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8
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(OMIM)
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Myotonic lid lag |
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1 / 7739
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9
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(OMIM)
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Cylindrical double-laminate membrane spirals derived from abnormal subsarcolemmal tubulovesicular structures on EM |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |