Rett syndrome other as known as (RTT) originally termed cerebroatrophic hyperammonemia is rare gepostnatal neurological disorder of the grey matter of the brain that almost exclusively affect females most of the time,but has also been found in male patients.
The clinical features include small hands and feet and a deceleration of the rate of head growth(including netic microcephaly in some).Repetitive stereotyped hand movement,such as wringing and/or repeatedly putting hands into the mouth,are also noted.People with Rett syndrome are prone to gastrointestinal disorder and up to 80% have seizures.They typically have no verbal skills, and about 50% of affected individuals do not walk.Scoliosis, growth failure, and constipation are very common and can be problematic.
Do you know why Rett Syndrome in seen mainly in girls?Read on to find out this, and many more interesting facts about Rett Syndrome.
Rett Syndrome is a genetic condition seen mainly in girls.It is characterized by early normal development followed by regression of the major areas of difficulty in this condition are brain development, social skills,language,and purposeful use of hands. Here are a few interesting facts about this disease.
* Baby girls are born “normal”but begin to lose acquired skills between the ages of 1-3 years old.
*It`s caused by a single gene mutation that leads to underproduction of an important brain protein.
*Debilitating neurological (movement) disorder that predominantly affects females.
*Another little girl is born with Rett Syndrome almost every 90 minutes.
*As prevalent as Cystic Fibrosis,ALS and Huntington`s
*Despite their physical disabilities, girls with Rett Syndrome are believed to be functioning mentally at a much higher level than previously thought.
Rett Syndrome is caused by because the MECP2 gene does not function properly in individuals with Rett Syndrome, insufficient amounts or structurally abnormal forms of the protein are produced and can cause other genes to be abnormally expressed.Not everyone who has an MECP2 mutation has Rett syndrome.
1Briefly describe what the disorder is in your introduction.
2.Describe in greater detail what the disease,characteristics and symptoms are.
3.What chromosome is defective? ``
4.Are certain populations of people more affected ?``mostly only girls”
5.Tell us how many people have that disorder and how many newborn babies have the disease; for example, one out of people have the disease. ``
6.Who discover the disease and in what year. ``Dr.Andreas”
7.Why did you choose this disease? Do you know anyone with the disease?``yes my cousin died cause of it”
8.Include a hand drawn picture or photograph of an individual with the disease or a picture of the blood cells, for instance.``down below”