Living with Familial isolated deficiency of vitamin E
An inherited condition (ataxia with vitamin E deficiency) where the body cannot use vitamin E, causing coordination and nerve problems.
Understanding Familial isolated deficiency of vitamin E
Low vitamin E can lead to nerve problems, including trouble coordinating movements (ataxia), slurred speech (dysarthria), and loss of feeling in the hands and feet. Some people develop an eye disease (retinitis pigmentosa) that causes vision loss. Most people notice movement problems between ages 5 and 15, and these tend to worsen with age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble coordinating movements (ataxia)
- Slurred speech (dysarthria)
- Abnormal walking (gait)
- Loss of reflexes and of feeling in the limbs
- Muscle weakness
- Night blindness (nyctalopia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in TTPA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Ataxia Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TTPA gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: ataxia with isolated vitamin e deficiency; ataxia with vitamin e deficiency; aved; familial isolated deficiency of vitamin type e; familial isolated vitamin e deficiency; friedreich ataxia phenotype with selective vitamin e deficiency
Patient organizations
- National Ataxia FoundationAtaxia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial isolated deficiency of vitamin E.
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