Living with Spinocerebellar ataxia, autosomal recessive 23
A rare inherited condition with early seizures, worsening balance and coordination problems and learning challenges.
Understanding Spinocerebellar ataxia, autosomal recessive 23
People have early-onset epilepsy that affects the whole brain, and balance and coordination problems that slowly worsen. Walking becomes very difficult, and some people need a wheelchair. Intellectual disability is also part of the condition.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Seizures
- Intellectual disability
- Difficulty walking
- Distinctive facial shape
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in TDP2 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 and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: National Ataxia Foundation, Epilepsy 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 and other patient organizations
- 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
GARD lists changes in the TDP2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to tud deficiency; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to tud deficiency; scar23; scar23 - spinocerebellar ataxia autosomal recessive type 23; spinocerebellar ataxia autosomal recessive type 23
Patient organizations
- National Ataxia FoundationSpinocerebellar ataxia, autosomal recessive 23 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinocerebellar ataxia, autosomal recessive 23.
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