Living with Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
A nervous system condition, often triggered by a fever illness, that affects balance, reflexes, vision, and hearing.
Understanding Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
The name lists the parts of the body usually affected: poor coordination from the cerebellum (ataxia), lost reflexes (areflexia), high foot arches (pes cavus), damage to the optic nerve (optic atrophy), and hearing loss from nerve damage (sensorineural). It typically begins after an illness with fever.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Absent tendon reflexes
- Damage to the optic nerve
- Hearing loss from nerve damage
- Muscle weakness
- Brain illness (encephalopathy)
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ATP1A3 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, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation, United Mitochondrial Disease Foundation, MitoAction
- 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
Changes in the ATP1A3 gene cause this condition. GARD lists it as inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: capos; capos (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome; capos syndrome; cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
Patient organizations
- National Ataxia FoundationCerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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