Muscular dystrophy - white matter spongiosis
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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13
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OrphanetNr:
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1877
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OMIM Id:
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ICD-10:
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G71.2
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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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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Genetic skeletal muscle disease
-Rare genetic disease
-Rare neurologic disease
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1
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(HPO:0000275)
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Narrow face |
Very frequent [Orphanet]
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76 / 7739
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2
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(HPO:0010628)
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Facial palsy |
Very frequent [Orphanet]
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146 / 7739
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3
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(HPO:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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4
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(HPO:0000256)
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Macrocephaly |
Very frequent [Orphanet]
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298 / 7739
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5
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(HPO:0001250)
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Seizures |
Very frequent [Orphanet]
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1245 / 7739
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6
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(HPO:0001315)
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Reduced tendon reflexes |
Very frequent [Orphanet]
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160 / 7739
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7
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(HPO:0002093)
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Respiratory insufficiency |
Frequent [Orphanet]
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410 / 7739
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8
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(HPO:0001252)
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Muscular hypotonia |
Very frequent [Orphanet]
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990 / 7739
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9
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(HPO:0003457)
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EMG abnormality |
Very frequent [Orphanet]
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78 / 7739
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10
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(HPO:0002486)
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Myotonia |
Very frequent [Orphanet]
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29 / 7739
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11
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(HPO:0003202)
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Skeletal muscle atrophy |
Very frequent [Orphanet]
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281 / 7739
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12
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(HPO:0030089)
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Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
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64 / 7739
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13
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |