Speech Therapy

Retta�?s Syndrome And Genes Disorder

a�?a��It is all in the genesa�? my friend would always say it. This was the only excuse she would come up with every time I pointed out her annoying habit of shaking her legs. All of her family and extended family would do that. I do not know how far that is true but Genes Disorder and many brain disorders are co-related, for example Retta��s Syndrome. Let us understand how a simple change or alteration of genes can result in a life altering disorder called retta��s syndrome.

Genes Disorder:
A gene called MECP2 on X chromosome is responsible for the normal functioning of the brain. This gene produces a protein called MeCP2 which helps in controlling and regulation a normal development of the brain. It is also essential in establishing different nerve cells in the brain and regulates many functions. MeCP2 protein also aids in switching off those functions that are not needed for some purpose.

Any mutation (alteration or change) of this gene interrupts the function of the protein and results in disruption of the normal function of the nerve cells too.
Boys with mutational MECP2 gene rarely survive but girls with this mutation are badly affected by a neurological disorder called Rett Syndrome.

Along with this gene, mutation of CDKL5 gene also plays an important role in determining the syndrome.

Symptoms Of Retta��s Disorder:

  • Slow physical and mental growth.
  • Limited or restricted body movements.
  • Reduced verbal and non-verbal communication.
  • Panic attacks.
  • Seizures.
  • Screaming, crying, and irritation.
  • Avoids making eye contacts with people.
  • Lack of interest in people.
  • Small head size and limited growth of it.
  • Marred motor skills.
  • Lack of coordination.
  • Grind their teeth.
  • Difficulty to balance body.
  • Shortness of breath, holding breath, and other breathing problems.
  • Difficulty in eating and swallowing food.
  • Curved spine.
  • Mostly bed ridden.

These are some of the symptoms of Retta��s syndrome which is a result of genes disorder. In order to minimize the severity of these signs of this syndrome it is better to consult an expert at the earliest.

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