Rett Syndrome

Rett syndrome is the condition in which there will be reversal of development in the nervous system causing difficulty in speech and in moving hands. This disorder is genetic in nature and is caused by the mutation in the gene of MECP2 (meck pea two) gene. This gene is fundamentally responsible for controlling certain functions of the body and produces a protein by name methyl cytosine. This protein is very essential for normal brain development and for managing other genes involved in movements. When there is deficiency in this gene, it would stop the functions of other genes and protein synthesis causing more complications.

Scientists are yet to find out how these genes can cause this disorder. But one cannot say for sure that every person who has MECP2 gene mutation will suffer from Rett syndrome. Another interesting feature about this disorder is it is not inherited and it is found only 1% of the case inherit this disorder from their parents. There are many females in a family who carry MECP2 gene but do not have symptoms for Rett disorder.

Who is at risk?

Studies say that one person in every 15,000 girls will have Rett syndrome. Girls are more affected with this disorder than boys. Now it is possible to find out through genetic testing methods whether any sister of the affected child carries the mutated gene or not. Girls normally will have two X chromosomes but one of them can be defective causing this disorder.

The intensity of the disorder and abnormality will be determined by the percentage of cells that contains normal copy of MECP2. They will have mild symptoms of disorder if the active X chromosome that carries the defective gene is minimized with the presence of large number of good cells. Again the symptoms will be severe if there is large percentage of cells that carries the defective X chromosome.

Boys will not carry two X chromosomes and if there is defect in one X chromosome, it would result in abortion or early death of the child.

Symptoms :

The girls with Rett syndrome will have symptoms like breathing difficulty, apraxia, oozing out excess of saliva, floppy arms, hands and legs, change in the developmental pattern, scoliosis, seizures or other nervous disorder, gait while walking and difficulty in learning and concentrating. They will show abnormal difficulty in speech and language expression resembling autism.

The child will develop normally like other children until 1-1.5 years after which the problem begins to appear. Other symptoms associated with this disorder are loss of sleep, loss of social interaction, difficulty in grasping objects and using hands, severe constipation with gastrointestinal reflux. There would be severe impairment in speech and language development in those girls.

Diagnoses :

Your doctor will do physical examination of the body of the child and may ask for genetic testing.

Pictures of Rett Syndrome :

Images, Pics, Pictures and Photos of Rett Syndrome

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Treatment :

There is no cure for Rett syndrome since it is genetic. Only treatment can be provided for assisting and supporting the symptoms. Physiotherapy is given for the child to help her in walking and moving her hands and legs. Extra care can be taken for feeding and diapering the child. Hence, the symptoms can be treated to the best for reducing the extent of damage.

Seizures can be controlled by prescribing destromethorphan and betaine. Drugs like L-Carnitine is given for improving language and speech ability and L-dopa is given for controlling motor rigidity.

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  4. Digeorge Syndrome
  5. Morquio Syndrome

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