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ANGELMAN SYNDROME & TREATMENT

Read about angelman syndrome medical facts: what is the definition of angelman syndrome, what are the signs and symptoms, medical treatment & how to treat angelman syndrome, information about the causes, diagnosis, and related angelman syndrome diseases.

Definition: What is "Angelman Syndrome"?

ANGELMAN SYNDROME

Angelman syndrome is a hereditary disorder that causes developmental disabilities & neurological problems, such as balancing & walking & difficulty speaking. Regular smiles & outbursts of laughter are common for people with Angelman syndrome & many have happy, excitable personalities.

Symptoms & Signs

Angelman Syndrome symptoms includes lack of or minimal speech, inability to walk, move or balance well, frequent smiling & laughter, frequent smiling & laughter & developmental delays, such as lack of crawling or babbling at 9 to 12 months & mental retardation.

Treatment: How to Treat "Angelman Syndrome"?

Medications of this disease depend on the signs & symptoms of the person. Treatments include anti-seizure medication, communication therapy, physical therapy & behavioral or social therapy.

Causes

Angelman Syndrome's often caused by problems with a gene located on chromosome 15 called UBE3A genes. You obtain your genes, which occur in pairs, from your mother & father.

Diagnosis

Your doctor will require a blood sample from your child. A mixture of hereditary tests can expose the chromosome defects related to this disease. Examinations include Chromosome analysis (karyotyping), FISH or Fluorescent in situ hybridization & DNA methylation test. DNA methylation test reveals a gene's imprinting pattern.

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