Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed somatosensory central conduction time
Always present (100%)HP:0100291
Perseverative behaviour
Always present (100%)HP:0030223
Progressive cerebellar ataxia
Always present (100%)HP:0002073
Short term memory loss
Always present (100%)HP:0033687
Areflexia
Very frequent (80-99%)HP:0001284
Ataxia
Very frequent (80-99%)HP:0001251
Corticospinal signs
Very frequent (80-99%)HP:0007256
Extensor plantar responses
Very frequent (80-99%)HP:0003487
Muscle weakness
Very frequent (80-99%)HP:0001324
Neuropathy
Very frequent (80-99%)HP:0009830
Vitamin E deficiency
Very frequent (80-99%)HP:0100513
Abnormal vocalization
Frequent (30-79%)HP:0002167
Cavus foot
Frequent (30-79%)HP:0001761
Clumsiness
Frequent (30-79%)HP:0002312
Difficulties with night vision
Frequent (30-79%)HP:0000662
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dysdiadochokinesis
Frequent (30-79%)HP:0002075
Dysmetria
Frequent (30-79%)HP:0001310
Gait disturbance
Frequent (30-79%)HP:0001288
Head titubation
Frequent (30-79%)HP:0002599
Impaired proprioception
Frequent (30-79%)HP:0010831
Infratentorial atrophy
Frequent (30-79%)HP:0001272
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Scoliosis
Frequent (30-79%)HP:0002650
Sensory neuropathy
Frequent (30-79%)HP:0000763
Abnormal heart rate
Occasional (5-29%)HP:0011675
Abnormal visual evoked responses
Occasional (5-29%)HP:0000649
Abnormality of RPE
Occasional (5-29%)HP:0007703
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Diabetes mellitus
Occasional (5-29%)HP:0000819
Quick Facts
- SNOMED CT
- 702442008
- UMLS CUI
- C1848533
- Fully Specified Name
- Ataxia with vitamin E deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.