Wednesday, April 25, 2012

Angelman Syndrome



Angelman Syndrome

  •  Angelman syndrome manifests itself through developmental delays. Most often, these delays include lack of crawling or babbling. Additionally, there can be a lack of or minimal speech, inability to walk, move or balance well, trembling movement of arms and legs, frequent smiling and laughter and a happy, excitable personality.
  • This disorder is most often caused by “problems with a gene located on chromosome 15 called the upiquitin-protein ligase E3A gene” (Staff 1). The problem is typically when chromosome 15 is missing or damaged. This chromosome is active in the brain.
  • There is no cure for this disease. Any treatment done helps manage the medical and developmental problems that the chromosome defects cause. Typically, this involves anti-seizure medications, physical therapy, communication therapy, and behavior therapy.
  • Typically people with this disorder do live a normal life span. However, as they age, these  people may "become less excitable" (Staff 1). 

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