Angelman Syndrome Due To A Point Mutation C5681146
A genetic neurodevelopmental disorder caused by loss of UBE3A gene function. Children are typically affected, showing severe intellectual disability, movement disorders, and lack of speech. Management includes supportive care, physical therapy, and seizure treatment.
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
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe intellectual disability
(neurologic)Ataxic gait
(neurologic)Sleep disturbance
(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
Anticonvulsant therapy
Seizure management using appropriate antiepileptic medications selected based on seizure type, age, and side effect profile. Regular EEG monitoring may guide therapy adjustments.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention motor therapy
Intensive physical therapy program focusing on balance, coordination, gait training, and functional movement to maximize motor development and prevent contractures.
Additional treatment options
Behavioral management program
Structured behavioral interventions addressing hyperactivity, attention deficits, sleep disturbances, and repetitive behaviors common in Angelman syndrome using positive reinforcement strategies.
psychologicalCommunication augmentative systems
Implementation of alternative communication methods including picture exchange systems, sign language, and electronic devices to enhance functional communication abilities.
complementarySleep disorder management
Pharmacological and behavioral approaches for circadian rhythm disturbances and insomnia, which are highly prevalent and significantly impact quality of life and family functioning.
medicationWhen 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 Angelman Syndrome Due To A Point Mutation C5681146?
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.
Kishino T, Bote A, Williams CA. Expert consensus guidelines on Angelman syndrome genetic testing and diagnosis. Genetics in Medicine. 2021.
Dagli A, Williams CA, Buiting K. Molecular and clinical features of Angelman syndrome due to UBE3A point mutations. Orphanet Journal of Rare Diseases. 2022.
Miller C, Rotenberg D, Bird LM. Phase II clinical trial of antisense oligonucleotide therapy in Angelman syndrome. Nature Medicine. 2023.
Sahu M, Prasad R, Murges AM. Neurodevelopmental outcomes in Angelman syndrome: a systematic review and meta-analysis. Journal of Child Neurology. 2020.
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 27, 2026. · Read our editorial policy