Living with Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
A rare inherited balance and coordination condition that starts in childhood, with eye movement problems and nerve damage.
Understanding Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
It is a type of cerebellar ataxia, meaning the part of the brain that coordinates movement is affected. It comes with oculomotor apraxia (trouble starting voluntary eye movements), severe nerve damage (neuropathy), and low levels of the blood protein albumin (hypoalbuminemia). It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Walking problems
- Nerve damage in the limbs (peripheral neuropathy)
- Trouble starting voluntary eye movements
- Eyebrows that flare outward at the center
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 APTX 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 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
- 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
- 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 APTX gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aoa1; aoa1 (ataxia oculomotor apraxia type 1); aptx oculomotor apraxia or related oculomotor disease; ataxia oculomotor apraxia type 1; ataxia with oculomotor apraxia type 1; ataxia-oculomotor apraxia syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.
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