Living with Diencephalic-mesencephalic junction dysplasia syndrome 1
A rare genetic brain condition with a small head, very delayed development, and muscle stiffness or abnormal movements.
Understanding Diencephalic-mesencephalic junction dysplasia syndrome 1
It leads to a head and brain that stay smaller than expected over time. Children have very delayed or absent movement and mental skills, often with profound intellectual disability. They often have muscle stiffness or unusual movements (spasticity or dystonia). Some have seizures and vision problems. Brain scans show a specific midbrain difference.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Small head size (microcephaly)
- Muscle tensing (dystonia)
- Low muscle tone in the trunk
- Infantile spasms
- Slow growth before birth
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 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
It is autosomal recessive, meaning a child is affected when they inherit a changed gene from both parents. GARD doesn't name a gene.
Also known as: dmjds1; microcephaly with spastic quadriplegia
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 syndrome 1.
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