Overview
Polymicrogyria due to TUBB2B mutation is a rare brain development disorder that affects how the surface of the brain forms before birth. The brain normally has a pattern of folds and grooves, but in this condition, the brain develops too many small folds (called polymicrogyria), which disrupts normal brain function. This happens because of a change (mutation) in the TUBB2B gene, which provides instructions for making a protein called beta-tubulin, essential for building the internal scaffolding of brain cells during early development. When this protein doesn't work properly, brain cells cannot migrate to their correct positions, leading to the abnormal folding pattern. Symptoms vary widely but often include intellectual disability, seizures (epilepsy), delayed motor development, and difficulties with speech and language. Some children may also have problems with eye movements, feeding difficulties, and muscle stiffness or weakness. The severity depends on how much of the brain is affected — some individuals have polymicrogyria limited to certain brain regions, while others have more widespread involvement. There is currently no cure for this condition. Treatment focuses on managing symptoms, particularly controlling seizures with anti-epileptic medications, and supporting development through physical therapy, occupational therapy, and speech therapy. Early intervention programs can help children reach their best potential. A team of specialists typically works together to provide comprehensive care throughout the person's life.
Key symptoms:
Seizures or epilepsyIntellectual disabilityDelayed motor milestones such as sitting and walkingSpeech and language delaysMuscle stiffness or spasticityDifficulty with fine motor skillsFeeding difficulties in infancyAbnormal eye movementsProblems with balance and coordinationMicrocephaly (smaller than average head size)Learning difficultiesDifficulty swallowingWeakness on one or both sides of the body
Clinical phenotype terms (30)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Polymicrogyria due to TUBB2B mutation.
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Specialists
View all specialists →No specialists are currently listed for Polymicrogyria due to TUBB2B mutation.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Polymicrogyria due to TUBB2B mutation.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How much of my child's brain is affected by polymicrogyria, and what does that mean for their development?,What seizure medications do you recommend, and what side effects should I watch for?,Should we pursue genetic testing for other family members, and what is the chance of this happening in a future pregnancy?,What therapies should we start right away, and how often should they occur?,Are there any clinical trials or emerging treatments that might be relevant for my child?,What is the long-term outlook for my child's motor skills, speech, and learning?,When should I call 911 or go to the emergency room for a seizure, and should we have rescue medication at home?
Common questions about Polymicrogyria due to TUBB2B mutation
What is Polymicrogyria due to TUBB2B mutation?
Polymicrogyria due to TUBB2B mutation is a rare brain development disorder that affects how the surface of the brain forms before birth. The brain normally has a pattern of folds and grooves, but in this condition, the brain develops too many small folds (called polymicrogyria), which disrupts normal brain function. This happens because of a change (mutation) in the TUBB2B gene, which provides instructions for making a protein called beta-tubulin, essential for building the internal scaffolding of brain cells during early development. When this protein doesn't work properly, brain cells cannot
How is Polymicrogyria due to TUBB2B mutation inherited?
Polymicrogyria due to TUBB2B mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Polymicrogyria due to TUBB2B mutation typically begin?
Typical onset of Polymicrogyria due to TUBB2B mutation is neonatal. Age of onset can vary across affected individuals.