Living with Autosomal recessive spinocerebellar ataxia 15
An extremely rare inherited condition with balance problems, seizures, and learning difficulty that begins early in life.
Understanding Autosomal recessive spinocerebellar ataxia 15
It causes mild to moderate balance and limb coordination problems that slowly get worse. People often have unclear speech, shaky eye movements, epilepsy, moderate intellectual disability, and delayed speech. Reflexes are weak in the arms and may be overactive in the legs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble coordinating walking (gait ataxia)
- Poor limb coordination
- Unclear speech (dysarthria)
- Seizures
- Delayed motor and speech skills
- 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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in RUBCN 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
It is caused by changes in the RUBCN 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 rubcn; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in rubcn; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn (run and cysteine rich domain containing beclin 1 interacting protein) deficiency; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to rubcn deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to run and cysteine rich domain containing beclin 1 interacting protein deficiency
Patient organizations
- National Ataxia FoundationAutosomal recessive spinocerebellar ataxia 15 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive spinocerebellar ataxia 15.
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