Rett Syndrome:

 Rett Syndrome is a disease of nerves. The nerves stops to function properly and makes a man disabled in many ways. It is also called neurodevelopment disorder. This type of neurological disorder is spread by DSM-IV. It is inherited genetically. This is an incurable disease. A person has to depend fully on others for the rest of his life. This disease mostly affects the girls.

Causes for Rett Syndrome

Sporadic mutation that takes place in the gene is the main cause of Rett syndrome. The MeCP2 gene present in the chromosomes lead to this disease. The gene that gets affected automatically stops the producing some specific types of protein in brain. There can also be excessive production of some protein which damages the nervous system. Girls are generally affected by this disease. It takes six to eighteen month for the disease to develop completely. At the complete stage, the growth of a patient’s brain slows down which causes to degenerate the language and losing the proper use of limbs. This disease is generally caused in a child by de novo mutation. This is carried to the child by a mother who is normal genotypically. A mother who is normal phenotypically can also transfer this disease if she has germline mutation. The gene in this case should encode methyl CpG binding protein 2 known as MECP2. This can be found toward the tip of X chromosome’s long arm at Xq28. Early onset epilepsy or infantile spasms are also a type of Rett Syndrome. It is generally caused by genetic mutation of cyclin-dependent kinase-like 5 known as CDKL5.

Treatment of Rett syndrome:

 Rett syndrome is a non-curable disease. There are treatments which often are needed for controlling the disease. The diet chart as well as the gastrointestinal process should be controlled. Observation of long QT syndrome and scoliosis is also necessary. Steps should be taken to develop the communication skill of the patient. Parental counseling is also necessary for treating a patient of Rett Syndrome. Physical therapy, speech therapy and occupational therapy are implemented for treating children having Rett syndrome. Antenatal testing is applied for identifying a family with a daughter who is affected by Rett Syndrome. The chance of the recurrence of the symptom in a same family is negligible. Seizure might cause problems. Most of the patients have scoliosis. Some of them also need surgery for correcting the shape of the spine. Patients who are able to walk are less prone to scoliosis.

Symptoms of Rett Syndrome:

The signs of this disease cannot be traced easily. A person has the symptoms of this disease from the birth which develops and becomes prominent when the baby is of two years. Normal growth of the child is hampered after a year. The baby also learns to speak quite late. The movement of the limbs is also not normal in the baby. Gradually it is observed that the baby is unable to walk or crawl properly. The abnormalities in the brain are also sighted by breathing problems of the baby. The symptoms are not restricted to any fixed tenure. It can persist for several decades. The symptoms are prominent in the cognition and the interaction of the patients. A patient who behaved in unsociable manner later might develop completely social behavior. Rigidity might reduce the motor function. Constipation, scoliosis and growth failure are the commonest symptoms of this disease which can become very much hazardous.

The symptoms of Rett Syndrome are often misinterpreted with the symptoms of autism and Angelman syndrome.

Rett Syndrome in Male and Female

 Rett syndrome mostly affect the female as the disease is caused by the gene which is found on the X chromosome. A girl whose X-chromosome has MECP2 from birth receives another X chromosome with a copy of the identical gene. Males do not have the normal gene for supplying normal proteins. MECP2 mutation causes abnormal gene and the male fetus of XY karyotype do not have the capability to stop the growth of the disease. This leads the male fetus to survive.