Living with Intellectual disability, autosomal dominant 5
A genetic condition (SYNGAP1-related) with intellectual disability, delayed speech and movement, and seizures.
Understanding Intellectual disability, autosomal dominant 5
It is clear in early childhood. The earliest features are delayed speech and motor skills such as sitting, standing, and walking. Many have weak muscle tone. Some lose skills they had gained. Almost everyone develops epilepsy, and about half have autism spectrum disorder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and motor skills
- Seizures (epilepsy)
- Poor balance and coordination (ataxia)
- Autistic behavior
- Unsteady walk
- Unusual eating behavior and pain sensation
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 SYNGAP1 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
SynGAP Research Fund, SYNGAP1 Foundation and RASopathies Network 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: SynGAP Research Fund, SYNGAP1 Foundation, RASopathies Network
- 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 SynGAP Research Fund 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
Changes in the SYNGAP1 gene cause this condition. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene can be enough.
Also known as: autosomal dominant intellectual disability 5; autosomal dominant non-syndromic intellectual disability caused by mutation in syngap1; epilepsy due to syngap mutations; intellectual developmental disorder, autosomal dominant 5; intellectual disability, autosomal dominant type 5; mrd5
Patient organizations
- SynGAP Research FundIntellectual disability, autosomal dominant 5 · United States
- SYNGAP1 FoundationIntellectual disability, autosomal dominant 5 · United States
- RASopathies NetworkIntellectual disability, autosomal dominant 5 · United States
- Simons SearchlightIntellectual disability, autosomal dominant 5 · United States
- Cure SYNGAP1Intellectual disability, autosomal dominant 5 · Epilepsy Foundation
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