Living with Autosomal recessive spinocerebellar ataxia 12
A rare inherited condition with balance problems, seizures, and learning difficulty that begins in early childhood.
Understanding Autosomal recessive spinocerebellar ataxia 12
Children have balance and coordination problems along with seizures and delayed development. Speech is unclear, eyes move in a shaky way, and learning is affected. Some people also have leg stiffness and mild shrinking of the cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble coordinating walking (gait ataxia)
- Delayed motor skills
- Delayed speech and language
- Unclear speech (dysarthria)
- Shaky eye movements (nystagmus)
- Reduced reflexes
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 WWOX 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 WWOX 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
It is caused by changes in the WWOX 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 - epilepsy - intellectual disability syndrome caused by mutation in wwox; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in wwox; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox (ww domain containing oxidoreductase) deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox deficiency
Patient organizations
- WWOX FoundationAutosomal recessive spinocerebellar ataxia 12 · United States
- National Ataxia FoundationAtaxia · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive spinocerebellar ataxia 12.
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