how is angelman syndrome inherited - Search
  1. If untreated for a prolonged period it may lead to

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

    See more

    Treatment

    Verified Expert

    Treatment involves the use of anti-seizure drugs, surgery or physiotherapy.

    Medication

    Anti-seizure medication: To control seizures.

    Eslicarbazepine . Carbamazepine

    See more

    Specialist

    Verified Expert

    Neurologist : Specializes in treating diseases of the nervous system, which includes the brain, the spinal cord, and the nerves.

    See more

    Diagnosis

    Verified Expert
    One or more of these tests may be recommended by your medical provider.
    Diagnosis involves a combination of genetic tests.

    Common tests & procedures

    DNA methylation test: This test analyses parental DNA pattern.

    Fluorescence in situ hybridization (FISH): To detect the presence of chromosomal abnormality.

    Genetic test: To detect whether presence of person's maternal copy of the UBE3A gene is mutated.

    See more

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  3. WEBAngelman syndrome is caused by a problem with the UBE3A gene located at the 15th chromosome. It’s important to keep in mind that in typical humans, the UBE3A gene from our father is silent and the brain uses …

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

    If untreated for a prolonged period it may lead to

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

    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 : 2024-05-13.
    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).

    Prevention

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

    Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more
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  7. WEBAngelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the …

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