Living with Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
A rare genetic syndrome (ANK3-related) with intellectual disability, behavior and sleep problems, and delayed speech.
Understanding Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
It brings varying degrees of intellectual disability, behavior problems (including ADHD, autism, and aggression), altered sleep patterns, and delayed speech. Some people also have low muscle tone, muscle stiffness, epilepsy, or constant hunger. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Moderate intellectual disability
- Delayed speech and language
- Sleep problems
- Autistic behavior
- Aggressive behavior
- Muscle stiffness (spasticity)
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 ANK3 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
- 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 ANK3 gene cause this condition. GARD lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ank3-related intellectual disability-sleep disturbance syndrome; intellectual developmental disorder, autosomal recessive 37; intellectual disability, autosomal recessive type 37; mental retardation, autosomal recessive, 37
Patient organizations
- Simons SearchlightIntellectual disability-hypotonia-spasticity-sleep disorder syndrome · United States
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