Living with Intellectual disability, autosomal dominant 40
A rare condition that affects brain development, with learning and speech delays, a small head, and low muscle tone.
Understanding Intellectual disability, autosomal dominant 40
People may have trouble with learning and speaking and a smaller-than-average head. They may also have seizures, weak muscles, eye problems, and trouble with using the bathroom. Some also have autism and trouble sleeping.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- No speech
- Crossed eyes (strabismus)
- Acid reflux
- Low muscle tone in the face
- Extra nipple
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 CHAMP1 Research 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
Changes in the CHAMP1 gene cause this condition. It follows an autosomal dominant pattern, meaning one changed copy of the gene can be enough.
Also known as: autosomal dominant intellectual disability 40; autosomal dominant non-syndromic intellectual disability caused by mutation in champ1; champ1 autosomal dominant non-syndromic intellectual disability; intellectual disability, autosomal dominant type 40; mrd40; nedhild
Patient organizations
- CHAMP1 Research FoundationIntellectual disability, autosomal dominant 40 · United States
- Simons SearchlightIntellectual disability, autosomal dominant 40 · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability, autosomal dominant 40.
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