Angelman Syndrome
CausesAngelman syndrome is caused by a genetic mutation on chromosomm 15 where the gene ubiquitim protein ligase is located. This gene is usually only activated on the maternal copy. If the maternal copy is mutated or not present, then the offspring develops the syndrome. If two copies of the paternal gene is present, the offspring develops the syndrome.
SymptomsSymptoms include seizures, imbalance, hyperactivity, intelligence impariment, hypopigmentation, scoliosis, sleeping disorders, small head size, obesity, frequent smiling and laugher, developmental delays such as lack of crawling or babbling. Patients will also show signs of unususual behavior such as tongue thrusting, hand flapping, raising arms while walking, and fascination with water.
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Treatment |
There is no cure for this syndrome. However, doctors can prescribe anticonvulsion medicine and klonapin for seizures. Patients are also strongly reccomended to attend physical therapy, communications therapy, and behavior therapy to help with sign language, overcome hyperactivity, and regain balance.
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Diagnosis |
Doctors can perform a blood test to check if the patient shows signs of the syndrome. Tests will look at paternal DNA pattern which checks for 3 out of the 4 genetic mechanisms that causes Angelman syndrome, missing chromosomes, and gene mutation which checks to see if the maternal copy of ubiquitin protein ligase is damaged or active.
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Risks and Complications |
Inheriting angelman syndrome is extremely rare and most patients do not have a family history of the disease. Some of the complications are scoliosis, obesity, hyperactivity, and sleep disorders. These factors can be treated seperately as there is no cure for the syndrome. The syndrome does not affect the lifespan of afflicted and lasts the whole life time. If proper treatment and care is given, patients can live a long normal life.
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