Living with Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
A rare and serious condition of brain development with delays in learning, speech, and movement, and sometimes seizures.
Understanding Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
People have delays in learning, speech, and movement. They may also have weak muscles, seizures, vision problems, and a smaller than average brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Small head (microcephaly)
- Low muscle tone
- Unwanted movements (chorea or dyskinesia)
- Seizures
- Inability to walk
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
GRIN2B Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: GRIN2B 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 GRIN2B Foundation 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
NDHMSD is caused by changes in the GRIN1 gene. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: autosomal dominant intellectual disability 8; autosomal dominant non-syndromic intellectual disability caused by mutation in grin1; grin1 autosomal dominant non-syndromic intellectual disability; intellectual disability, autosomal dominant 8; intellectual disability, autosomal dominant type 8; mrd8
Patient organizations
- GRIN2B FoundationNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant · United States
- CureGRINNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant · United States
- CureGRIN FoundationNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.
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