MUSCULAR DYSTROPHY, SCAPULOHUMERAL
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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16
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OrphanetNr:
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OMIM Id:
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600416
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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:0000707)
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Abnormality of the nervous system |
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61 / 7739
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2
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(HPO:0001637)
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Abnormality of the myocardium |
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76 / 7739
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3
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(HPO:0001638)
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Cardiomyopathy |
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192 / 7739
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4
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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5
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(HPO:0008970)
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Scapulohumeral muscular dystrophy |
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4 / 7739
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6
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(HPO:0001324)
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Muscle weakness |
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859 / 7739
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7
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(OMIM)
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No dysarthria |
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1 / 7739
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8
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(OMIM)
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No distal weakness |
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1 / 7739
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9
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(OMIM)
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No facial weakness |
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3 / 7739
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10
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(OMIM)
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No sensory abnormalities |
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5 / 7739
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11
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(OMIM)
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No contractures |
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1 / 7739
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12
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(OMIM)
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Excessive variation of muscle fiber size and scattered fibers with internal nuclei, but no fiber type grouping on ATPase preparations |
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1 / 7739
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13
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(OMIM)
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Often marked asymmetry of weakness |
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1 / 7739
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14
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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15
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(OMIM)
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Minimal elevation of creatine kinase |
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1 / 7739
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16
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(OMIM)
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Low amplitude, short duration, and polyphasic units on EMG |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |