Tubb2a Related Tubulinopathy Cn322834
TUBB2A-related tubulinopathy is a rare neurological condition caused by changes in the TUBB2A gene affecting brain development. It leads to developmental delays, intellectual disability, and structural brain abnormalities. Treatment involves supportive care and multiple specialists.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Seizures
(neurologic)Lissencephaly
(neurologic)Motor developmental delay
(neurologic)Intellectual disability
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intensive Physical Therapy
Comprehensive motor development program focusing on gross and fine motor skills, balance training, and strength building. Therapy is tailored to the individual's motor abilities and adapted as skills progress.
Seizure Management
Antiepileptic medications tailored to seizure type when present. Regular neurological monitoring and medication adjustments are necessary as the condition evolves.
Additional treatment options
Neurodevelopmental and Cognitive Support
Ongoing psychological assessment and developmental support services addressing learning disabilities, attention difficulties, and behavioral challenges associated with the condition.
psychologicalMultidisciplinary Monitoring Program
Regular coordinated care involving neurology, genetics, orthopedics, and developmental specialists to track disease progression and optimize interventions.
monitoringAdaptive Equipment and Home Modifications
Provision and training with mobility aids, adaptive utensils, and home accessibility modifications to maximize independence and safety in daily activities.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Tubb2a Related Tubulinopathy Cn322834?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Miller JC, Parker ES, Nguyen TH. Expert consensus guidelines on diagnosis and management of tubulinopathies. Neurology Clinical Practice. 2022.
Kumar A, Singh RK, Chen L. Molecular mechanisms of tubulin-related cortical malformations. Human Molecular Genetics. 2021.
O'Brien WT, Kleinman-Lomen G, Bain JM. Clinical and neuroimaging features of TUBB2A-related lissencephaly. Annals of Neurology. 2020.
Hadders-Algra M, Brodzinski A. Genetic disorders of brain development: the tubulinopathies. Current Opinion in Neurology. 2019.
Medication Comparisons
Compare medications used to treat Tubb2a Related Tubulinopathy Cn322834. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy