Living with Gnb5-related intellectual disability-cardiac arrhythmia syndrome
A rare genetic condition with intellectual disability, developmental delay, and heart rhythm problems.
Understanding Gnb5-related intellectual disability-cardiac arrhythmia syndrome
It involves intellectual disability, developmental delay, language problems, and an irregular heartbeat, most often sick sinus syndrome. Other reported features include epilepsy, low muscle tone, eye changes, attention deficit hyperactivity disorder (ADHD), autism, and acid reflux. Severity varies a lot. It usually starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delays in overall development
- Delayed or absent speech
- Irregular heartbeat (arrhythmia)
- Low muscle tone (hypotonia)
- Quick eye movements (nystagmus)
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 heart and blood vessel specialists.
- 3Consider genetic testing
Changes in GNB5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the GNB5 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: g protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome; gnb5-related intellectual disability, cardiac arrhythmia syndrome; iddca; intellectual developmental disorder with cardiac arrhythmia; intellectual developmental disorder with cardiac arrhythmia; iddca
Patient organizations
Rare-disease groups that can help
- 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 Gnb5-related intellectual disability-cardiac arrhythmia syndrome.
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