Living with Maternal uniparental disomy of chromosome 4
A change in which a person gets both copies of chromosome 4 from the mother, usually with no effect on health.
Understanding Maternal uniparental disomy of chromosome 4
GARD says it most likely has no visible effect, except when the mother carries a recessive disease gene change and the child receives two copies of it. It starts in pregnancy and the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unsteady movement (ataxia)
- Intellectual disability
- Delayed speech
- Slow growth in childhood
- Diarrhea and poor fat absorption
- Depression
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 Chromosome Disorder Outreach
- 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
Both copies of chromosome 4 come from the mother. Health effects arise only if the child also gets two copies of a recessive disease gene change that the mother carries.
Also known as: maternal uniparental disomy of chromosome type 4; upd(4)mat
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Maternal uniparental disomy of chromosome 4.
Explore research for Maternal uniparental disomy of chromosome 4
Explore actively recruiting Maternal uniparental disomy of chromosome 4 studies with HealthSpark.
Find actively recruiting studies for Maternal uniparental disomy of chromosome 4 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Maternal uniparental disomy of chromosome 4 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Maternal uniparental disomy of chromosome 4
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Maternal uniparental disomy of chromosome 4 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.