MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL
General Information (adopted from Orphanet):
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Synonyms, Signs:
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MUSCULAR DYSTROPHY, PROGRESSIVE, INVOLVING SHOULDER GIRDLE AND BACK
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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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310095
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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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X-linked 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:0003691)
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Scapular winging |
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51 / 7739
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2
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(HPO:0003547)
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Shoulder girdle muscle weakness |
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21 / 7739
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3
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(HPO:0011675)
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Arrhythmia |
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226 / 7739
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4
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(HPO:0003236)
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Elevated serum creatine phosphokinase |
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214 / 7739
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5
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(HPO:0003560)
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Muscular dystrophy |
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88 / 7739
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6
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(OMIM)
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Shoulder girdle and back weakness |
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1 / 7739
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7
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(OMIM)
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No arrhythmia or other myocardial involvement |
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1 / 7739
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8
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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9
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(OMIM)
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No calf or facial weakness |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |