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Rett Syndrome

What is Rett Syndrome?

Rett syndrome is an inherited disorder that affects only females. Rett syndrome causes mental retardation and developmental degeneration.

Rett Syndrome can occur in males, but is usually lethal, causing miscarriage, stillbirth or early death.

Rett Syndrome is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. It is often misdiagnosed because a lot of health professionals are not familiar with it.

What Causes Rett Syndrome?

Rett Syndrome occurs when the there are mutations on the X gene. Females have two X chromosomes. The mutations in the X chromosome causes damage in the maturing brain. The severity of the rett syndrome varies. Severity of rett syndrome is linked to specific types of mutation.

Symptoms of Rett Syndrome

Some of the most common symptoms of rett syndrome are:

  • Normal development during first months of infancy
  • Floppy extremities
  • Slow head growth
  • Language development, both expressed and understood, is severely impaired
  • Loss of meaningful hand use
  • Autistic-like behavior
  • Seizures (they can range from non-existent to severe, but they tend to lessen in their intensity in later adolescence.)
  • Breathing abnormalities
  • Scoliosis

Can Rett Syndrome be treated?

Rett syndrome cannot be cured. However, treatments are available to help patients alleviate their symptoms. Some of the treatments include physical therapy, and occupational therapy.

 

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