Living with DYRK1A-related intellectual disability syndrome
A rare genetic condition with a small head, delayed development, speech and feeding difficulties, and behavior differences.
Understanding DYRK1A-related intellectual disability syndrome
People often have a smaller head, delayed development, mild to severe intellectual disability, trouble with speech and feeding, and behavior problems. Facial features can include prominent ears, deep-set eyes, and a short nose with a broad tip. Other features vary and may include seizures, short height, and eye, heart, urinary, muscle, or bone problems. Signs show up in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Delayed speech and language
- Intellectual disability
- Seizures, including with fever
- Feeding difficulties
- Autistic behavior and anxiety
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 and genetic specialists.
- 3Consider genetic testing
Changes in DYRK1A 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)
- 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 Simons Searchlight 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
GARD says changes in the DYRK1A gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: autosomal dominant intellectual disability 7; dual specificity tyrosine phosphorylation regulated kinase 1a-related intellectual disability syndrome; dyrk1a (dual specificity tyrosine phosphorylation regulated kinase 1a)-related intellectual disability syndrome; dyrk1a syndrome; intellectual developmental disorder, autosomal dominant 7; intellectual disability, autosomal dominant type 7
Patient organizations
- Simons SearchlightDYRK1A-related intellectual disability syndrome · United States
- DYRK1A Syndrome International Association (DSIA)DYRK1A-related intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with DYRK1A-related intellectual disability syndrome.
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