Living with Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
A rare genetic condition that affects balance, walking, speech, and nerves, usually starting in adulthood.
Understanding Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
People may have trouble walking (ataxia) and speaking (dysarthria), poor arm and leg coordination, and involuntary eye movements (nystagmus). They may have balance and spatial awareness problems, nerve damage, a chronic cough, or problems with the autonomic nervous system. It usually starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking (gait ataxia)
- Slurred speech (dysarthria)
- Absent tendon reflexes
- Nerve damage (peripheral neuropathy)
- Shaky movements when reaching (intention tremor)
- Trouble with fast, alternating movements
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in RFC1 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
A-T Children's Project, Friedreich's Ataxia Research Alliance (FARA) and National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: A-T Children's Project, Friedreich's Ataxia Research Alliance (FARA), 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 A-T Children's Project 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 RFC1 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: cabv (cerebellar ataxia, bilateral vestibulopathy) syndrome; cabv syndrome; canvas; canvas - cerebellar ataxia, neuropathy, vestibular areflexia syndrome; cerebellar ataxia with bilateral vestibulopathy syndrome; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
Patient organizations
- A-T Children's ProjectCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome · United States
- Friedreich's Ataxia Research Alliance (FARA)Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome · United States
- 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 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.
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