Living with Autosomal recessive spinocerebellar ataxia 20
A rare inherited condition with severe balance problems, intellectual disability, and coarsening facial features, starting in infancy.
Understanding Autosomal recessive spinocerebellar ataxia 20
It begins in infancy. People have moderate to severe intellectual disability and global developmental delay. Facial features slowly become more coarse, and the head is relatively large. Seizures are not part of this condition. Hearing loss can occur, and scans show a small or underdeveloped cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe balance and coordination problems (ataxia)
- Severe intellectual disability
- Delayed or absent speech
- Coarse facial features and large tongue
- Low muscle tone
- Hearing loss from the inner ear
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 SNX14 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
It is caused by changes in the SNX14 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive cerebellar ataxia caused by mutation in snx14; autosomal recessive spinocerebellar ataxia type 20; intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome; scar20
Patient organizations
- National Ataxia FoundationAutosomal recessive spinocerebellar ataxia 20 · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive spinocerebellar ataxia 20.
Explore research for Autosomal recessive spinocerebellar ataxia 20
Explore actively recruiting Autosomal recessive spinocerebellar ataxia 20 studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive spinocerebellar ataxia 20 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 Autosomal recessive spinocerebellar ataxia 20 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 Autosomal recessive spinocerebellar ataxia 20
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 Autosomal recessive spinocerebellar ataxia 20 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.