Rett syndrome

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Rett Syndrome

Rett syndrome (pronounced /rɛt/), is a rare genetic disorder that affects brain development, resulting in severe mental and physical disability. It is estimated to affect about 1 in 12,000 girls born each year and is rarely seen in boys.

Etymology

Rett syndrome is named after Dr. Andreas Rett, an Austrian pediatrician who first described the syndrome in 1966.

Symptoms

Rett syndrome symptoms include slowed growth, loss of purposeful hand skills, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

Causes

Rett syndrome is caused by mutations in the MECP2 gene, which is found on the X chromosome. The MECP2 gene provides instructions for making a protein (MeCP2) that is critical for normal brain function.

Diagnosis

Diagnosis of Rett syndrome is based on clinical criteria, which include the presence of certain characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Rett syndrome. Treatment is aimed at managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and medication for seizures.

Prognosis

The prognosis for individuals with Rett syndrome varies. Most individuals with Rett syndrome live into adulthood, but many require assistance with daily activities.

See Also

External links

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