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  2. Angelman syndrome

    Also known as: happy puppet syndrome
    Content medically reviewed by
    Dr. Rakshith Bharadwajverified specialist
    MD, Internal Medicine
    View full profile onLinkedIn logoLinkedIn
    Prevention

    This condition cannot be prevented. But if there is a family history, it is recommended to get genetic counseling before pregnancy.

    Symptoms & Reports
    If you are experiencing new, severe, or persistent symptoms, contact a health care provider.

    The symptoms include:

    • Impaired speech
    • Ataxia
    • Scoliosis- curvature of the spinal cord
    • Happy and excitable
    • Seizures and convulsions beginning at age 2
    • Have reduced sleeping time compared to other children
    • Short attention span
    • Frequently sticking out the tongue
    • Hair, skin, eyes are pale

    Common symptoms and their severity as reported by people on Patientslikeme.

    Symptoms
    Severity Graph
    (11)
    (10)
    (10)
    (10)
    Last Update : 2024-04-01.
    Seve...
    Mode...
    Mild
    None
    Causes

    • The condition is caused by loss of function of UBE3A gene
    • This can result from mutation or deletion of the gene.
    • It may also occur as a result of inactivation of the gene due to other chromosomal changes.
    • In rare cases, a child may inherit two copies of inactive forms of the gene instead of one active and one inactive (uniparental disomy).

    Complications

    If untreated for a prolonged period it may lead to

    • Feeding difficulties
    • Abnormal sleep-wake patterns
    • Scoliosis
    • Obesity due to large appetite

    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more

    People also ask

    Can Angelman syndrome be cured?
    There's no cure for Angelman syndrome. Research is looking at targeting certain genes for treatment. Current treatment focuses on managing symptoms and addressing the developmental delays in children with Angelman syndrome. A team of healthcare professionals from different areas works with you to manage your child's condition.

    Angelman syndrome - Diagnosis and treatment - Mayo Clinic

    www.mayoclinic.org/diseases-conditions/angelman-syndr…
    What is the life expectancy of people with Angelman syndrome?
    The life expectancy of people with Angelman syndrome is normal. Angelman syndrome itself does not cause death. However, there can be severe complications due to some of the symptoms of the syndrome, such as seizures and aspiration pneumonia.

    What is Angelman Syndrome – Angelman Syndrome Foundation

    www.angelman.org/what-is-as/
    What is Angelman syndrome (as)?
    Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common.

    Angelman Syndrome - GeneReviews® - NCBI Bookshelf

    www.ncbi.nlm.nih.gov/books/NBK1144/
    Can Angelman syndrome cause death?
    Angelman syndrome itself does not cause death. However, there can be severe complications due to some of the symptoms of the syndrome, such as seizures and aspiration pneumonia. There is also the possibility of accidents due to walking and balance issues and attraction to water that can cause severe injury.

    What is Angelman Syndrome – Angelman Syndrome Foundation

    www.angelman.org/what-is-as/
    Do people with Angelman syndrome get better with age?
    With age, people with Angelman syndrome become less hyperactive and may sleep better. Most people with the syndrome will have learning disability and limited speech throughout their life. In adults, some mobility may be lost and joints may stiffen.

    Angelman syndrome - NHS

    www.nhs.uk/conditions/angelman-syndrome/
    How does Angelman syndrome affect a child?
    Angelman syndrome causes delayed development, problems with speech and balance, mental disability, and, sometimes, seizures. Many people with Angelman syndrome smile and laugh often. They tend to be happy and easy to excite. Delays in maturing, called developmental delays, begin between about 6 and 12 months of age.

    Angelman syndrome - Symptoms and causes - Mayo Clinic

    www.mayoclinic.org/diseases-conditions/angelman-syndr…
    See more
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  2. Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/...

    Angelman syndrome - Symptoms and causes - Mayo Clinic

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    Famous People with Angelman Syndrome - HRF
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  3. Cleveland Clinic
    https://my.clevelandclinic.org/health/diseases/17978

    Angelman Syndrome: What It Is, Symptoms & Treatment

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    Angelman Syndrome: Everything you need to know
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    Angelman syndrome: a journey through the brain - PubMed
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  4. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK560870

    Angelman Syndrome - StatPearls - NCBI Bookshelf

    WebNov 9, 2020 · There is no cure for Angelman syndrome (AS), but only the management of the symptoms which requires a multidisciplinary team. Early diagnosis and early, consistent treatment using speech, physical, …

  5. National Institute of Neurological Disorders and Stroke
    https://www.ninds.nih.gov/.../angelman-syndrome

    Angelman Syndrome - National Institute of Neurological …

  6. Angelman Syndrome Foundation
    https://www.angelman.org/what-is-as

    What is Angelman Syndrome – Angelman Syndrome …

    WebThe life expectancy of people with Angelman syndrome is normal. Angelman syndrome itself does not cause death. However, there can be severe complications due to some of the symptoms of the syndrome, …

  7. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK1144

    Angelman Syndrome - GeneReviews® - NCBI Bookshelf

    WebSep 15, 1998 · Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with …

  8. Boston Children's Hospital
    https://www.childrenshospital.org/conditions/angelman-syndrome

    Angelman Syndrome | Boston Children's Hospital

  9. Verywell Health
    https://www.verywellhealth.com/angelman-syndrome...

    Symptoms, Causes, and Treatments of Angelman Syndrome

  10. MedlinePlus
    https://medlineplus.gov/.../angelman-sy…

    Angelman syndrome: MedlinePlus Genetics

    WebThe life expectancy of people with this condition appears to be nearly normal. Frequency. Causes. Inheritance. Other Names for This Condition. Additional Information & Resources. References. Angelman syndrome …

  11. National Organization for Rare Disorders
    https://rarediseases.org/rare-diseases/angelman-syndrome

    Angelman Syndrome - Symptoms, Causes, Treatment | NORD

  12. Medical News Today
    https://www.medicalnewstoday.com/articles/angelman-syndrome-as

    Angelman syndrome (AS): Definition, causes, and treatments

  13. NHS
    https://www.nhs.uk/conditions/angelman-syndrome

    Angelman syndrome - NHS

  14. Wikipedia
    https://en.wikipedia.org/wiki/Angelman_syndrome

    Angelman syndrome - Wikipedia

  15. Genetic and Rare Diseases Information Center
    https://rarediseases.info.nih.gov/diseases/5810/angelman-syndrome

    Angelman syndrome - About the Disease - Genetic and Rare …

  16. Angelman Syndrome Foundation
    https://www.angelman.org/what-is-as/testing-and-diagnosis

    Testing and Diagnosis – Angelman Syndrome Foundation

  17. Angelman Syndrome Foundation
    https://www.angelman.org/what-is-as/symptoms-and-causes

    Symptoms and Causes – Angelman Syndrome Foundation

  18. MedicineNet
    https://www.medicinenet.com/angelman_syndrome/article.htm

    Angelman Syndrome: Read About Symptoms, Causes and …

  19. Physiopedia
    https://www.physio-pedia.com/Angelman_Syndrome

    Angelman Syndrome - Physiopedia

  20. angelmanuk.org
    https://www.angelmanuk.org/what-is-angelman-syndrome/diagnosis

    Diagnosis - Angelman Syndrome - Angelman Syndrome

  21. Britannica
    https://www.britannica.com/science/Angelman-syndrome

    Angelman syndrome | Description, Cause, Symptoms, & Treatment

  22. Angelman Syndrome Foundation
    https://www.angelman.org/what-is-as/genetics-of...

    Genetics of AS – Angelman Syndrome Foundation

  23. Cedars-Sinai
    https://www.cedars-sinai.org/blog/answers-for...

    Answers for Children With Angelman Syndrome | Cedars-Sinai

  24. PR Newswire
    https://www.prnewswire.com/news-releases/ionis...

    Ionis announces positive topline results from Phase 1/2a trial of ...

  25. Angelman Syndrome Foundation
    https://www.angelman.org/ionis-announces-positive-results-halos

    Ionis Announces Positive Results from Halos Phase 1/2a – …

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