Angelman Syndrome

Below you will find more information about Angelman Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Angelman Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Angelman Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Angelman Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

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

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 and DNA methylation test. DNA methylation test reveals a gene's imprinting pattern.

Treatment

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

Symptoms and Signs

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

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 and father.

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