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(F84.2) Rett syndrome
More details coming soon
581 359 in individuals diagnosis rett syndrome confirmed
5 150 deaths with diagnosis rett syndrome
1% mortality rate associated with the disease rett syndrome
Diagnosis rett syndrome is diagnosed Men are 64.79% more likely than Women
479 012
Men receive the diagnosis rett syndrome
2 162 (0.5 %)Died from this diagnosis.
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102 347
Women receive the diagnosis rett syndrome
2 988 (2.9 %)Died from this diagnosis.
Risk Group for the Disease rett syndrome - Men aged 5-9 and Women aged 10-14
In Men diagnosis is most often set at age 0-59, 75-79
Less common in men the disease occurs at Age 60-74, 80-95+Less common in women the disease occurs at Age 0-1, 65-95+
In Women diagnosis is most often set at age 0-64
Disease Features rett syndrome
Absence or low individual and public risk
Rett syndrome - what does this mean
Rett syndrome is a rare genetic disorder that typically begins to manifest after 6-18 months of age in females. it is caused by a mutation in the mecp2 gene, which affects the development of the brain and nervous system. symptoms of rett syndrome include impaired motor skills, language and communication difficulties, seizures, repetitive hand movements, and breathing problems.
What happens during the disease - rett syndrome
Rett syndrome is a neurodevelopmental disorder that is caused by a mutation in the mecp2 gene on the x chromosome. this mutation results in a disruption of normal brain development, leading to a range of neurological and cognitive impairments, including language and motor skill delays, breathing irregularities, and seizures. additionally, the disorder is characterized by a loss of purposeful hand movements, social withdrawal, and repetitive behaviors.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination of the patient
- Observation of the patient's behavior
- Brain imaging, such as MRI or CT scan
- Genetic testing for the MECP2 gene mutation
- EEG (electroencephalogram) to measure electrical activity in the brain
- Blood tests to measure levels of certain hormones and proteins
- Developmental assessments to measure the patient's cognitive and motor skills
Treatment and Medical Assistance
Main Goal: Treating Rett Syndrome
- Educating and supporting families and carers
- Providing physical, occupational and speech therapy
- Administering medications to manage symptoms
- Providing nutritional support
- Conducting regular medical check-ups
- Encouraging social interaction and communication
- Introducing assistive technology to improve communication
- Providing psychological support
- Creating an individualized treatment plan
53 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Rett syndrome - Prevention
Rett syndrome can be prevented by genetic counseling and testing prior to pregnancy. it is important for individuals and couples who are planning to become pregnant to discuss their family history with a genetic counselor or healthcare provider to determine their risk of having a child with rett syndrome. additionally, prenatal screening tests may help detect the condition in a fetus.