Rett Syndrome

 

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Random blog day boo yah. As you should know Fridays is random blog day were we talk anything and everything and pretty much run with it. Today's blog is on the genetic disorder Rett Syndrome.

Rett Syndrome is a genetic disorder that almost exclusively appears in baby girls between six to eighteen months. Symptoms often include impairments in both Language and co-ordination and repetitive movements. Those effected are often grow slower, have difficulty walking and have a much smaller head. There is a variable of how severe the Condition can be.

Rett Syndrome affects one in eight thousand five hundred females. In 1999, Huda Zoghbi a Lebanese-American physician discovered the mutation that causes the condition. The genetic mutation that causes Rett Syndrome is found in the MECP2 gene on the X Chromosome. With less than a 1% of cases being inherited, the mutation occurs almost exclusively in girls, Boys born with a similar mutation often pass away just after birth. Diagnosis of Rett Syndrome is often based on symptoms and is often confirmed by Genetic Testing.

There is currently no known cure for Rett Syndrome, though current treatment is directed at improving the symptoms. Anticonvulsants may be used t help with seizures. Special education, physiotherapy and leg braces also maybe used depending on the needs of each child. Many of those with Rett Syndrome live into middle age.

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THE WEBSITE BIBLIOGRAPHY:

https://en.wikipedia.org/wiki/Rett_syndrome

https://www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227

https://www.nhs.uk/conditions/rett-syndrome/

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