Living with Tubulinopathy-associated dysgyria
A rare genetic brain condition with differences in brain structure, developmental delay, and eye movement problems.
Understanding Tubulinopathy-associated dysgyria
The surface folds of the brain can be irregular in size and direction. Children have global developmental delay, and movement skills are usually more affected than speech. Other features can include unusual eye movements, crossed eyes, seizures, and behavior problems. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Unusual brain folds (dysgyria)
- Small head (microcephaly)
- Eye movement problems (oculomotor apraxia)
- Crossed eyes (strabismus)
- Attention deficit (ADHD)
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 (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; brain stem asymmetry, superior cerebellar and basal ganglia 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 Tubulinopathy-associated dysgyria.
Explore research for Tubulinopathy-associated dysgyria
Explore actively recruiting Tubulinopathy-associated dysgyria studies with HealthSpark.
Find actively recruiting studies for Tubulinopathy-associated dysgyria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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