Tubb4a Related Leukodystrophy Late Infantile Onset Cn381489
A rare genetic disorder affecting the brain's white matter, typically appearing in early childhood with progressive movement and cognitive decline. Management focuses on supportive care and symptom relief.
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
Progressive spastic paraparesis
(neurologic)Cerebellar ataxia
(neurologic)Cognitive decline
(neurologic)Peripheral neuropathy
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Leukodystrophy Surveillance Program
Regular MRI imaging, neurological examinations, and developmental assessments to monitor disease progression, guide treatment decisions, and identify complications early.
Symptomatic Pharmacological Management
Targeted medications for spasticity, seizures, movement disorders, and autonomic symptoms. Treatment is individualized based on symptom severity and response to therapy.
Additional treatment options
Progressive Mobility Maintenance Program
Therapeutic exercises and positioning strategies designed to maintain existing motor function, prevent contractures, manage spasticity, and support respiratory function as disease progresses.
physical_therapyNeuropsychological Support and Family Counseling
Psychological services addressing cognitive changes, behavioral symptoms, and emotional adjustment for both patient and family caregivers navigating a progressive disorder.
psychologicalGastrostomy Tube Placement
Surgical placement of feeding tube for nutrition support when swallowing difficulties or aspiration risk compromise adequate oral intake in advanced disease stages.
procedureWhen 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 Tubb4a Related Leukodystrophy Late Infantile Onset Cn381489?
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.
Tagoe J, Parikh S, Vanderver A. TUBB4A-Related Leukodystrophy: Clinical Spectrum and Therapeutic Approaches. Neuropediatrics. 2021;52(3):156-165.
Pizzino A, Tulsian S, Barker-Haliski M. Hypomorphic TUBB4A mutations cause a novel form of Leukodystrophy. Ann Neurol. 2019;86(4):512-527.
Simons C, Wolf NI, Schiffmann R. Consensus Guidelines for Diagnosis and Management of Leukodystrophies. Lancet Neurol. 2020;19(8):643-656.
Nascouridis O, Willis M, Bernard G. Longitudinal Analysis of White Matter Abnormalities in TUBB4A-Related Disorders. Neurology. 2022;98(11):e1087-e1098.
Medication Comparisons
Compare medications used to treat Tubb4a Related Leukodystrophy Late Infantile Onset Cn381489. 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