Rett

Rett syndrome is a rare genetic disorder that primarily affects girls and leads to severe cognitive and physical impairments. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

Symptoms

The symptoms of Rett syndrome are usually noticed in early childhood. The first signs of the disorder may be noticed as early as 6 to 18 months of age, although the typical age of onset is between 1 and 2 years. The symptoms of Rett syndrome are often confused with those of autism, cerebral palsy, or non-specific developmental delay.

The most common symptoms of Rett syndrome include:

• Loss of purposeful hand skills (such as the ability to grasp and manipulate objects)
• Development of repetitive hand movements (such as hand-wringing or hand-washing)
• Slowed growth, particularly of the brain and head
• Problems with walking and balance
• Seizures
• Intellectual disability
• Breathing difficulties
• Problems with heart rhythm

Causes

Rett syndrome is caused by mutations in the MECP2 gene, which is located on the X chromosome. This gene provides instructions for making a protein that is critical for normal brain function. Mutations in the MECP2 gene lead to the production of an abnormal protein that cannot carry out its normal role. The result is the wide range of symptoms seen in Rett syndrome.

Diagnosis

The diagnosis of Rett syndrome is based on the presence of specific symptoms and the results of genetic testing. The diagnosis can be confirmed by finding a mutation in the MECP2 gene.

Treatment

There is currently no cure for Rett syndrome. Treatment is focused on managing the symptoms and improving the quality of life for those with the disorder. This may include physical therapy, occupational therapy, speech therapy, and medication to control seizures and manage other symptoms.

See also

• MECP2
• Genetic disorders
• Neurodevelopmental disorders
• X-linked dominant inheritance

References

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