Ataxia with vitamin E deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
gptkb:AVED
|
| gptkbp:causedBy |
mutation in TTPA gene
|
| gptkbp:complication |
progressive neurological impairment
|
| gptkbp:diagnosedBy |
genetic testing
low serum vitamin E levels |
| gptkbp:differentialDiagnosis |
gptkb:Friedreich's_ataxia
|
| gptkbp:firstDescribed |
1981
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:58
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ataxia with vitamin E deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
277460
|
| gptkbp:onset |
childhood or adolescence
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
muscle weakness
retinitis pigmentosa dysarthria areflexia loss of proprioception progressive ataxia |
| gptkbp:treatment |
high-dose vitamin E supplementation
|
| gptkbp:bfsParent |
gptkb:Vitamin_E
|
| gptkbp:bfsLayer |
4
|