Living with X-linked spinocerebellar ataxia type 3
A very rare inherited condition that starts in infancy, affecting balance, muscle tone, hearing, vision and development.
Understanding X-linked spinocerebellar ataxia type 3
It begins in infancy with low muscle tone, poor coordination (ataxia), hearing loss, developmental delay, an inward-turning eye and damage to the optic nerve. The course is progressive. GARD says it has been described in one family with at least six affected males, connected through carrier females.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Ataxia (poor balance and coordination)
- Global developmental delay
- Low muscle tone (hypotonia)
- Inward-turning eye (esotropia)
- Optic atrophy (damage to the optic nerve)
- Hearing loss from the inner ear (sensorineural)
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 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
- Brain and nervous system specialists (neurologists); 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 doesn't name a gene for this condition. It is passed down in an X-linked recessive way, and carrier females can pass it to sons.
Also known as: scax3; spinocerebellar ataxia, x-linked type 3; x-linked ataxia deafness syndrome; x-linked ataxia-deafness syndrome; x-linked ataxia-hearing loss syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked spinocerebellar ataxia type 3.
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