Living with Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
A rare inherited condition that affects muscle control and coordination, with nerve damage and sometimes eye movement trouble.
Understanding Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Other signs may include nerve damage in the limbs, mild thinking difficulty and, less often, movement disorders. About half of people have oculomotor apraxia, which makes it hard to move the eyes side to side in the direction they want. It can start anywhere from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Absent reflexes
- Nerve damage with less feeling and movement
- Trouble moving the eyes side to side
- Jerky eye movements (nystagmus)
- Shrinking of the cerebellum
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 SETX 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 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, 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 it is caused by changes in the SETX gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: aoa2; aoa2 - ataxia oculomotor apraxia type 2; ataxia with oculomotor apraxia; ataxia with oculomotor apraxia 2; ataxia with oculomotor apraxia type 2; ataxia-ocular apraxia 2
Patient organizations
- National Ataxia FoundationAtaxia · 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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2.
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