Angelman Syndrome
Angelman Syndrome 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.
Angelman Syndrome 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.
Angelman Syndrome 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.
Angelman Syndrome 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.
Angelman Syndrome 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.