National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ataxia with vitamin E deficiency


Other Names:
AVED; Ataxia with isolated vitamin E deficiency; Familial isolated deficiency of vitamin E; AVED; Ataxia with isolated vitamin E deficiency; Familial isolated deficiency of vitamin E; Friedreich-like ataxia with selective vitamin E deficiency; Familial isolated vitamin E deficiency; Friedreich-like ataxia; Isolated vitamin E deficiency See More
Categories:
Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements (ataxia), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis pigmentosa). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body. Vitamin E is important because it protects the cells of the neurological system (neurons) from dangerous molecules called free radicals. AVED is inherited in an autosomal recessive manner. Treatment for AVED includes vitamin E supplements, which will prevent AVED from developing if given before symptoms begin and may reverse some neurological symptoms if begun after AVED develops.[1][2]
Last updated: 7/10/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 33 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pyramidal sign 0007256
Areflexia
Absent tendon reflexes
0001284
Muscle weakness
Muscular weakness
0001324
30%-79% of people have these symptoms
Dysarthria
Difficulty articulating speech
0001260
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Dysmetria
Lack of coordination of movement
0001310
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ] 		0000662
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pes cavus
High-arched foot
0001761
Scoliosis 0002650
Sensory neuropathy
Damage to nerves that sense feeling
0000763
5%-29% of people have these symptoms
Abnormality of retinal pigmentation 0007703
Abnormality of visual evoked potentials 0000649
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Diabetes mellitus 0000819
Dystonia 0001332
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Hypertonia 0001276
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] 		0001268
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Tremor 0001337
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
Percent of people who have these symptoms is not available through HPO
Ataxia 0001251
Autosomal recessive inheritance 0000007
Hypercholesterolemia
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] 		0003124
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] 		0002155
Increased LDL cholesterol concentration
Increased circulating LDL level
Increased LDL cholesterol
[ more ] 		0003141
Low levels of vitamin E
Vitamin E deficiency
0100513
Tendon xanthomatosis 0010874
Xanthelasma
Fatty deposits in skin around the eyes
Fatty deposits on eyelids
[ more ] 		0001114
Showing of 33 |
Last updated: 7/1/2020
AVED may be suspected in individuals who have the following findings at the beginning of puberty:[2]
  • Progressive ataxia
  • Clumsiness of the hands
  • Loss of the ability to know where one's body is in space (proprioception)
  • Absent reflexes (areflexia)
  • The inability to perform rapid, alternating movements (dysdiadochokinesia)
  • A tendency to sway or fall while standing upright with the feet together, arms stretched out and the eyes closed (positive Romberg sign)
  • A nodding movement of the head (titubation)
  • Decreased visual sharpness (acuity)
  • Positive Babinski sign (upward movement of the big toe and fanning of the feet after the sole of the foot has been firmly stroked)
  • Macular atrophy (wasting away of the cells that form the part of our eye responsible for central vision)
  • Retinitis pigmentosa (eye disease in which there is damage to the retina)
Laboratory studies typically show a reduced plasma vitamin E concentration but normal levels of lipoproteins (proteins that combine with and transport fat or other lipids in the blood). Other studies that may be useful include: nerve conduction studies, brain imaging, and studies of nerve tissues.[2][3]

Although no universal diagnostic guidelines are available, researchers suggest that diseases that cause fat malabsorption, such as abetalipoproteinemia should be ruled out. Genetic testing finding two TTPA gene mutations may be useful to confirm the diagnosis.[2][3]
Last updated: 11/17/2016

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for AVED requires lifelong high dose supplementation of vitamin E. When treated early, some symptoms, such as ataxia and intellectual decline, can be reversed. In older patients, treatment may slow disease progression, but some symptoms remain.[2][3]

Research indicates that if vitamin E treatment is initiated in presymptomatic individuals with two mutations in the TTPA gene (e.g., younger sibs of an affected individual), the symptoms of AVED will not develop.[2]
Last updated: 11/17/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis mainly includes Friedreich ataxia, sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) and abetalipoproteinemia (see these terms). Other autosomal recessive cerebellar ataxias may be considered as well (Refsum disease, ataxia telangiectasia, Charcot-Marie-Tooth disease 1A and ataxia with oculomotor apraxia types 1 and 2 (see these terms)).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • Coordination of Rare Diseases at Sanford (CoRDS) hosts a specific registry for patients with ataxia in partnership with the National Ataxia Foundation. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. The CoRDS registry is free for patients to enroll and for researchers to access.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Ataxia with vitamin E deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ataxia with vitamin E deficiency. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Ataxia with vitamin E deficiency. Genetics Home Reference; July 5 2016; https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency.
  2. Markus Schuelke. Ataxia with Vitamin E deficiency. GeneReveiws. October 13, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1241/. Accessed 11/17/2016.
  3. Mathieu ANHEIM. Ataxia with vitamin E deficiency. Orphanet. February 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96. Accessed 11/17/2016.