Living with Ataxia - oculomotor apraxia type 4
A rare inherited nerve condition that starts in the first decade with movement and balance problems and eye movement trouble.
Understanding Ataxia - oculomotor apraxia type 4
It starts with dystonia (involuntary muscle contractions) and ataxia (balance and coordination trouble) in the first decade. Other features include oculomotor apraxia (trouble starting eye movements) and nerve damage in the limbs. Some people have cognitive impairment. It gets worse over time, and many people use a wheelchair in their second or third decade.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with balance and coordination (ataxia)
- Involuntary muscle contractions (dystonia)
- Trouble starting eye movements (oculomotor apraxia)
- Nerve damage in the limbs (peripheral neuropathy)
- Cognitive impairment in some people
- Obesity
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 PNKP 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, Dystonia Medical Research 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, Dystonia Medical Research 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
GARD says changes in the PNKP gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aoa4; ataxia-oculomotor apraxia type 4; oculomotor apraxia or related oculomotor disease caused by mutation in pnkp; pnkp oculomotor apraxia or related oculomotor disease
Patient organizations
- National Ataxia FoundationAtaxia · United States
- Dystonia Medical Research FoundationDystonia · 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 Ataxia - oculomotor apraxia type 4.
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