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Disease Profile
Ataxia with vitamin E deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
All ages
ICD-10
G11.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
AVED; Ataxia with isolated vitamin E deficiency; Familial isolated deficiency of vitamin E;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Symptoms
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.
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 | ||
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 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pes cavus |
High-arched foot
|
0001761 |
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 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
0000819 | ||
0001332 | ||
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Hypertonia | 0001276 | |
Hypertrophic |
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 | ||
0001251 | ||
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 |
Diagnosis
- 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 (
Although no universal diagnostic guidelines are available, researchers suggest that diseases that cause fat malabsorption, such as abetalipoproteinemia should be ruled out.
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
Research indicates that if vitamin E treatment is initiated in presymptomatic individuals with two
Related diseases
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.
|
Organizations
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
-
Ataxia UK
12 Broadbent Close
London, N6 5JW United Kingdom
Toll-free: 0845 644 0606 (Helpline)
Telephone: 020 7582 1444
E-mail: [email protected]
Website: https://www.ataxia.org.uk/ -
National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: [email protected]
Website: https://ataxia.org/
Learn more
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.
References
- Ataxia with vitamin E deficiency. Genetics Home Reference; July 5 2016; https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency.
- Markus Schuelke. Ataxia with Vitamin E deficiency. GeneReveiws. October 13, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1241/. Accessed 11/17/2016.
- Mathieu ANHEIM. Ataxia with vitamin E deficiency. Orphanet. February 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96. Accessed 11/17/2016.
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