Living with Autosomal recessive spinocerebellar ataxia 11
A rare inherited condition with slowly worsening balance and speech problems, with delayed development in childhood.
Understanding Autosomal recessive spinocerebellar ataxia 11
People have slowly worsening walking problems, unclear speech, and poor coordination of the arms, legs, and trunk. There is a history of developmental delay from childhood. Brain scans show mild shrinking of the cerebellum. Onset is listed as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Balance and coordination problems (ataxia)
- Unsteady walk
- Unclear speech (dysarthria)
- Shaky eye movements (nystagmus)
- Global developmental delay
- Trouble swallowing (dysphagia)
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 SYT14 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 SYT14 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-psychomotor delay syndrome; autosomal recessive cerebellar ataxia, psychomotor delay syndrome; autosomal recessive spinocerebellar ataxia type 11; autosomal recessive syndromic cerebellar ataxia caused by mutation in syt14; scar11; spinocerebellar ataxia, autosomal recessive type 11
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 11.
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