Living with Diencephalic-mesencephalic junction dysplasia
A rare genetic brain condition with severe intellectual disability, a small head, low muscle tone, and seizures.
Understanding Diencephalic-mesencephalic junction dysplasia
Features include low muscle tone in the trunk, stiff arms and legs (spastic quadriparesis), seizures, and distinct facial features. A "butterfly sign" on brain MRI is characteristic. Clubfoot, heart muscle disease, extra fluid in the brain, and autistic features may also occur. GARD lists onset during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list a symptom list. Its summary describes these features:
- Severe intellectual disability
- Small, slowly growing head (microcephaly)
- Low muscle tone in the trunk
- Stiff arms and legs (spastic quadriparesis)
- Seizures
- Distinct facial features
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 rare disease patient organizations for support
- 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 genes cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: diencephalic mesencephalic junction dysplasia; diencephalic-mesencephalic junction dysplasia syndrome
Patient organizations
Rare-disease groups that can help
- 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 Diencephalic-mesencephalic junction dysplasia.
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