Angelman Syndrome.

YOKI

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[h=1]Angelman syndrome[/h] [h=3]Alternative Names[/h] Angelman syndrome

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[h=3]What is Angelman syndrome[/h] Angelman syndrome is a genetic disorder that can causes developmental delay and neurological problems such as difficulty speaking, balancing and walking and, in some cases, seizures. Angelman syndrome cannot be detected until parents begin to notice developmental delays when a baby is about 6-12 months old.

The Angelman Syndrome was derived from Dr. Harry Angelman. He was the one who have first given the illness a name in the year 1965 which was “Happy Puppet Syndrome” and later changed to Angelman Syndrome.


[h=3]Signs and symptoms[/h] Angelman syndrome signs and symptoms include the followings:

  • Developmental delays such as lack of crawling or babbling at 6 to 12 months and intellectual disability
  • Lack of or minimal speech
  • Inability to walk, move or balance well (ataxia)
  • Trembling movement of arms and legs
  • Frequent smiling and laughter
  • Happy, excitable personality:
  • Seizures, usually beginning between 2 and 3 years of age
  • Stiff or jerky movements
  • Small head size, with flatness in the back of the head (microbrachycephaly)
  • Crossing of the eyes (strabismus)
  • Tongue thrusting
  • Walking with arms up in the air
  • Light pigmentation in hair, skin and eyes (hypopigmentation)
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YOKI

Minister's of Penmai
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[h=3]Possible complications[/h] Angelman syndrome can cause such complications as:


  • Feeding difficulties
  • Hyperactivity
  • Sleep disorders
  • Curving of the spine (scoliosis)
  • Obesity


[h=3]What causes[/h] In most cases, Angelman syndrome is caused by problems with a gene located on chromosome 15 called the ubiquitin-protein ligase E3A (UBE3A) gene.

[h=3]Prevention[/h] Angelman syndrome may rarely be passed from affected parent to child through defective genes. If you are concerned about a family history of Angelman syndrome, or if you already have a child with Angelman syndrome, you may wish to talk to your doctor or a genetic counselor for help planning future pregnancies.


[h=3]Treatment[/h]
No specific therapy for Angelman syndrome exists. Medical therapy for seizures is usually needed. Physical and occupational therapies, communication therapy and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.
 
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