BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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113610
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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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Adult onset
[Omim]
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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:0000639)
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Nystagmus |
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555 / 7739
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2
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(HPO:0010530)
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Palatal myoclonus |
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2 / 7739
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3
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(HPO:0002078)
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Truncal ataxia |
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41 / 7739
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4
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(HPO:0002313)
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Spastic paraparesis |
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33 / 7739
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5
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(OMIM)
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CT and MRI show mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord, with normal pons and olives |
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1 / 7739
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6
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(HPO:0006827)
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Atrophy of the spinal cord |
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5 / 7739
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7
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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8
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(HPO:0002120)
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Cerebral cortical atrophy |
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187 / 7739
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9
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(HPO:0003581)
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Adult onset |
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117 / 7739
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10
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(OMIM)
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Rhythmic myoclonus of palate, pharynx, larynx, and face |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |