Living with Autosomal recessive spinocerebellar ataxia 14
A rare inherited condition with balance problems and learning difficulty that starts in childhood after developmental delay in infancy.
Understanding Autosomal recessive spinocerebellar ataxia 14
It starts with global developmental delay in infancy, followed by childhood-onset trouble with walking and coordination. Intellectual disability ranges from mild to severe. The cerebellum shrinks over time, and eye movements are abnormal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowly worsening balance and walking problems
- Shrinking of the cerebellum
- Global developmental delay
- Delayed speech and language
- Unclear speech (dysarthria)
- Mild intellectual disability
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 SPTBN2 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 SPTBN2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ataxie spinocérébelleuse à début infantile avec retard psychomoteur; autosomal recessive cerebellar ataxia caused by mutation in sptbn2; autosomal recessive cerebellar ataxia-cognitive defect syndrome; autosomal recessive cerebellar ataxia, cognitive defect syndrome; autosomal recessive spinocerebellar ataxia type 14; cerebellar ataxia, autosomal recessive, spectrin-associated, 1
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 Autosomal recessive spinocerebellar ataxia 14.
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