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Rett syndrome: everything you need to know

Rett syndrome is a disease that affects the neurological development of subjects. It is a congenital disease and affects mainly girls. On the other hand, their few clinical cases classify it as a rare disease .

Symptoms of Rett syndrome

Usually, individuals present normal development during the first months of life. In most patients, this development lasts until six or eighteen months. However, from this period, alterations in the brain become evident.

According to clinical cases, we can identify the main symptoms associated with this disorder:

  • Problems in cognitive development: the cognitive development of the individual stagnates and makes him unable to understand ideas, reason problems, etc.
  • Alterations in language: in this case patients forget any progress in this area and speech development is delayed.
  • Instability of the mood: the subjects present an incomplete development of the emotions that stands out with a strong irritability. During childhood, uncontrolled crying occurs regularly.
  • Apraxia: these people are unable to control the movements. Also, repetitive movements similar to hand washing occur. We also found a low muscle tone in the patients (hypotonia).
  • Epilepsy : during the first years of life can develop this disorder, associated with frequent seizures.
  • Respiratory problems: disorders of sleep apnea, hyperventilation, etc. are frequent. both at night and during the day.
  • Scoliosis : more than half of the clinical cases present a deviation of the spine that presents different degrees of severity.
  • Disorders of the circulatory system: there are alterations in the nervous control of the pulsations. Therefore, we find arrhythmias , especially bradycardia, where the heartbeat tends to slow down.
  • Alterations in food: patients can not chew and swallow properly because they are not able to coordinate the different muscles needed. In addition, we can find constipation and abdominal pain during digestion.

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Causes of Rett syndrome

Rett syndrome: everything you need to know

This disorder has its origin in a genetic mutation in the MECP2 gene, located on the X chromosome. In most clinical cases, there is no inheritance or genetic transmission of this alteration. Therefore, the mutation occurs during embryonic development and the patient is born with the transformed gene.

Because of this , a very abundant protein is produced in the nuclei of the neurons , the most important cells of the Central Nervous System (CNS). This substance is essential in neurological development, since it regulates synaptic processes.

On the other hand, the synapse is the process by which neurons can communicate with each other . In this way, they can transmit stimuli (information) with the help of other chemical compounds, the neurotransmitters.

However, it is not yet known what is the relationship between the lack of this protein and brain alterations. Currently, several investigations are being carried out in this regard.

Diagnosis of Rett syndrome

Rett syndrome: everything you need to know

The tests most used by medical teams to detect this disease are:

  • Obtaining images and functional tests of nuclear medicine: the most widely used are computerized axial tomography (CAT) and magnetic resonance imaging. With them, the medical team is able to analyze different body regions, especially a study of the structures that make up the CNS.
  • In addition, other tests focused on the brain can be performed, for example, the electroencephalogram to study the structure of the brain along with other tests to analyze its physiology. In this way, specialists can perform the lumbar puncture to examine the cerebrospinal fluid.

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Treatment of Rett syndrome

Rett syndrome: everything you need to know

There is no effective cure for this disorder . However, there are numerous treatments that relieve the patient and facilitate their daily life.

Among them we can include pharmacological treatment with various medications, therapy with psychologists, rehabilitation physiotherapy, etc.

Until now, the factors that favor the development of this disease have not been identified. Therefore, no preventive measures for this disorder have been reported.

Rett syndrome: everything you need to know