Living with Olivopontocerebellar atrophy-deafness syndrome
A rare genetic condition starting in infancy, with shrinking of parts of the brain, hearing loss, and speech problems.
Understanding Olivopontocerebellar atrophy-deafness syndrome
It starts in infancy and has been described in fewer than 15 children. Most cases happened by chance, and autosomal recessive inheritance was suggested in three. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble coordinating movement (ataxia)
- Hearing impairment
- Quick, involuntary eye movements (nystagmus)
- Increased reflexes
- Shrinking of the brain's outer layer (cortical atrophy)
- Enlarged fluid spaces in the brain (ventriculomegaly)
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 ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); 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 genes cause this condition. Most cases were sporadic, and autosomal recessive inheritance was suggested in three cases.
Also known as: olivopontocerebellar atrophy and deafness; olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss; olivopontocerebellar atrophy-hearing loss syndrome
Patient organizations
- National Ataxia FoundationOlivopontocerebellar atrophy-deafness syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Olivopontocerebellar atrophy-deafness syndrome.
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