Living with X-linked non progressive cerebellar ataxia
A rare X-linked condition with low muscle tone in infancy and poor coordination that doesn't worsen over time, with normal thinking.
Understanding X-linked non progressive cerebellar ataxia
Babies have delayed early motor skills, very low muscle tone, and slow eye movements. Thinking abilities are normal. Some also have tremor, mild swallowing trouble, and slurred speech. A brain MRI shows a small cerebellum, the brain area for coordination.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination that doesn't worsen (ataxia)
- Low muscle tone in infancy
- Delayed motor skills
- Intention tremor
- Slurred speech
- Unsteady walk and frequent falls
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.
- 3Consider genetic testing
Changes in ATP2B3 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 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
X-linked non-progressive cerebellar ataxia is caused by changes in the ATP2B3 gene and follows X-linked inheritance.
Also known as: scax5; spinocerebellar ataxia, x-linked 5; spinocerebellar ataxia, x-linked 5, x-linked recessive; x-linked spinocerebellar ataxia type 5
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 non progressive cerebellar ataxia.
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