Living with Abortive cerebellar ataxia
A condition, also called Behr syndrome, with early optic nerve damage, poor coordination, stiff muscles, and learning challenges.
Understanding Abortive cerebellar ataxia
People have optic atrophy, which is damage to the nerve that carries vision. Neurological features include poor balance and coordination (ataxia), muscle stiffness (spasticity), and intellectual disability. Other signs vary from person to person.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Optic atrophy and visual impairment
- Poor balance and coordination (ataxia)
- Shrinking of the cerebellum
- Nerve damage in hands and feet (neuropathy)
- Trouble swallowing
- Chronic constipation
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 OPA1 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
United Mitochondrial Disease Foundation, MitoAction 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: United Mitochondrial Disease Foundation, MitoAction, 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 United Mitochondrial Disease 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
Changes in the OPA1 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance, so a child inherits a changed copy of the gene from each parent.
Also known as: behr complicated familial optic atrophy; behr syndrome; behrs; opa1 gene related behr syndrome; optic atrophy, infantile hereditary, with neurologic abnormalities
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · 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 Abortive cerebellar ataxia.
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