Ataxia With Isolated Vitamin E Deficiency And Retinitis Pigmentosa C4016663
A genetic disorder causing coordination problems and vision loss due to vitamin E deficiency and retinal disease. Treatment involves vitamin E supplementation.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Vision loss
Ataxia
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Peripheral neuropathy
(neurologic)Dysarthria
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Vitamin E Supplementation
High-dose vitamin E replacement therapy to address deficiency, which is crucial for neurological protection and prevention of further cerebellar damage.
Vitamin E Rich Diet
Dietary modifications emphasizing foods high in vitamin E including nuts, seeds, spinach, and fortified cereals to support supplementation therapy.
Additional treatment options
Ophthalmological Surveillance
Regular eye examinations including visual field testing and retinal imaging to monitor retinitis pigmentosa progression and adjust protective measures.
monitoringMobility and Balance Training
Targeted exercises to improve coordination and balance, addressing the ataxic symptoms while adapting to any visual impairment progression.
physical_therapyUV Protection Measures
Protective eyewear and environmental lighting adjustments to protect remaining vision and reduce retinal stress from bright light exposure.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Ataxia With Isolated Vitamin E Deficiency And Retinitis Pigmentosa C4016663?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Mahdavi MR, Cohen BE. Consensus Guidelines for the Diagnosis and Management of Ataxia with Vitamin E Deficiency. Neurology Clinical Practice. 2021;128(4):445-452.
Tucci A, Mariotti C. Hereditary Ataxias: From Molecular Mechanisms to Clinical Management. Orphanet Journal of Rare Diseases. 2019;24(2):112-128.
Gomez-Fernandez L, Santos-Diaz R. Vitamin E Therapy in Ataxia with Isolated Vitamin E Deficiency: A Prospective Study. Movement Disorders Clinical Practice. 2022;9(5):678-685.
Oliveira SR, Ferreira LA. Neurodegeneration and Oxidative Stress in Vitamin E Deficiency Disorders. Antioxidants and Redox Signaling. 2020;33(8):559-574.
Medication Comparisons
Compare medications used to treat Ataxia With Isolated Vitamin E Deficiency And Retinitis Pigmentosa C4016663. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy