Living with Congenital cerebellar ataxia due to RNU12 mutation
A rare inherited balance and coordination condition starting in infancy with delayed motor skills and unsteady walking.
Understanding Congenital cerebellar ataxia due to RNU12 mutation
Infants have delayed motor milestones, low muscle tone, an unsteady walk, tremor with purposeful movement, shaky eye movements and slurred speech. Some have learning difficulties. Brain scans show a small and shrinking cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed motor milestones
- Unsteady, wide-based walk (gait ataxia)
- Frequent falls
- Tremor with purposeful movement
- Slurred speech (dysarthria)
- Low muscle tone in the trunk
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 RNU12 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
Changes in the RNU12 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital cerebellar ataxia due to rna, u12 small nuclear mutation
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 Congenital cerebellar ataxia due to RNU12 mutation.
Explore research for Congenital cerebellar ataxia due to RNU12 mutation
Explore actively recruiting Congenital cerebellar ataxia due to RNU12 mutation studies with HealthSpark.
Find actively recruiting studies for Congenital cerebellar ataxia due to RNU12 mutation with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Congenital cerebellar ataxia due to RNU12 mutation studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Congenital cerebellar ataxia due to RNU12 mutation
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital cerebellar ataxia due to RNU12 mutation experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.