familial isolated deficiency of vitamin E
MeSH: C535393ORPHA: 96
Overview
rare autosomal recessive neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with familial isolated deficiency of vitamin E, sourced from HPO and Orphanet clinical annotations.
AtaxiaAreflexiaMuscle weaknessBabinski signAbnormal pyramidal signPeripheral neuropathyDecreased circulating vitamin E concentrationNystagmusNyctalopiaSensory neuropathyDysarthriaCerebellar atrophyGait disturbanceDysmetriaPes cavusDysdiadochokinesisAbnormal speech patternClumsinessHead titubationScoliosisImpaired proprioceptionUrinary urgencyVisual impairmentAbnormality of visual evoked potentialsDiabetes mellitusMental deteriorationHypertoniaDystoniaTremorHypertrophic cardiomyopathyDevelopmental regressionPositive Romberg signSkeletal muscle atrophyHemiplegia/hemiparesisAbnormal retinal pigmentationArrhythmiaPigmentary retinopathy
Classification & Codes
MeSH Code
C535393Orphanet Code
ORPHA:96familial isolated deficiency of vitamin E
| MeSH | C535393 |
| Orphanet | ORPHA:96 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO