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  3. Ataxia with oculomotor apraxia type 4
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rare disease research!
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Ataxia with oculomotor apraxia type 4


Title


Other Names:
AOA4; Ataxia-oculomotor apraxia-4; Ataxia-oculomotor apraxia type 4
Categories:
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Symptoms Symptoms


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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 25 |
Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Ataxia 0001251
30%-79% of people have these symptoms
Cognitive impairment
Mental impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
[ more ]
0100543
Dystonia 0001332
Obesity
Having too much body fat
0001513
Oculomotor apraxia 0000657
5%-29% of people have these symptoms
Abnormal saccadic eye movements 0000570
Abnormality of toe
Abnormalities of the toes
0001780
Distal lower limb muscle weakness 0009053
Dysarthria
Difficulty articulating speech
0001260
Dyscalculia 0002442
Dyslexia
Reading disability
0010522
Kyphoscoliosis 0002751
Muscular dystrophy 0003560
Pes cavus
High-arched foot
0001761
Postural instability
Balance impairment
0002172
Progressive distal muscular atrophy 0008955
Sensorimotor neuropathy
Nerve damage causing decreased feeling and movement
0007141
Sensory impairment 0003474
Short attention span
Poor attention span
Problem paying attention
[ more ]
0000736
Percent of people who have these symptoms is not available through HPO
Areflexia
Absent tendon reflexes
0001284
Autosomal recessive inheritance 0000007
Cerebellar atrophy
Degeneration of cerebellum
0001272
Peripheral neuropathy 0009830
Rapidly progressive
Worsening quickly
0003678
Tetraplegia
Paralysis of all four limbs
0002445
Showing of 25 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
  • The National Ataxia Foundation, a nonprofit organization dedicated to improving the lives of persons affected by ataxia, provides lists of neurologists, ataxia clinics, and movement disorder clinics.

Learn More Learn More


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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.

In-Depth Information

  • 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.

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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