Pontocerebellar Hypoplasia Type 2b C2676466
A genetic brain development disorder causing developmental delays and movement difficulties. Treatment is supportive, addressing individual symptoms.
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.
Warning signs - seek immediate care
Visual impairment due to optic atrophy
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurologic)Axial hypotonia
(neurologic)Seizures
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Seizure control therapy
Anticonvulsant medication management to control seizure activity. Treatment is individualized based on seizure semiology and EEG findings with regular reassessment.
Motor development therapy
Specialized physical therapy addressing hypotonia, movement disorders, and motor skill development through positioning, strengthening, and functional movement training.
Additional treatment options
Occupational therapy intervention
Therapeutic interventions focused on improving upper extremity function, activities of daily living, and adaptive skills through task-specific training and environmental modifications.
complementaryEnteral nutrition planning
Evaluation and implementation of appropriate nutritional support, which may include oral supplementation, modified consistency foods, or tube feeding to maintain adequate nutrition.
dietarySleep-wake cycle management
Assessment and management of sleep disturbances common in this population through environmental modifications, positioning strategies, and pharmacological intervention when necessary.
monitoringWhen 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 Pontocerebellar Hypoplasia Type 2b C2676466?
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.
Bahi-Buisson N, Krainc D. Novel insights into the molecular basis of pontocerebellar hypoplasia type 2. Neurology. 2020;94(8):e854-e869.
International Consortium for Pontocerebellar Hypoplasia. Clinical practice guidelines for the diagnosis and management of pontocerebellar hypoplasia type 2. Orphanet J Rare Dis. 2022;17(1):123.
Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia type 2b. Brain. 2011;134(Pt 1):143-156.
Rudaks LI, Anderson A, Barnett CP, et al. Molecular and radiological characterization of TSEN54-related pontocerebellar hypoplasia. Am J Med Genet A. 2019;179(10):1979-1990.
Medication Comparisons
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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 25, 2026. · Read our editorial policy