Living with Ring chromosome 20 syndrome
A rare chromosome condition causing seizures in childhood, often hard to treat, plus learning and behavior differences.
Understanding Ring chromosome 20 syndrome
The most common feature is repeated seizures in childhood, which may occur by day or during sleep. They arise in one area of the brain (the frontal lobe) and are often complex and hard to treat. Long seizure episodes with confusion and behavior changes can occur. Most people also have intellectual disability and behavior difficulties. Major birth defects are rare.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures starting in one area of the brain
- Seizures during sleep
- Long non-convulsive seizure episodes
- Behavior changes
- Intellectual disability
- Loss of thinking skills
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
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: 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 Chromosome Disorder Outreach 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 a chromosome change in which chromosome 20 forms a ring. GARD does not name a gene or list an inheritance pattern.
Also known as: ring 20; ring chromosome 20; ring chromosome type 20
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Ring chromosome 20 syndrome.
Explore research for Ring chromosome 20 syndrome
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