Rett Syndrome Life Expectancy – A rare X linked Genetic Disease

Rett Syndrome Life Expectancy – A rare X linked Genetic Disease

Rett syndrome have first described by Austrian Doctor Andreas Rett in year 1966. This disease is a rare disease that have reported in 1 of 10,000 females.

Rett Syndrome genetics:

Rett syndrome has an X-linked dominant inheritance. The cause of this disease is the mutation of methyl CpG binding protein 2 (MECP2) gene on X chromosome long arm.  Because of it, impairment in the methylation of DNA will develop. DNA methylation provides a permanent mechanism to silence or deactivate genes by repressing transcription.

Rett Syndrome symptoms:

  • Regression and loss of hand skills may develop in childhood period. Hand movements such as hand wringing or washing, clapping and tapping may seen in childhood also.
  • Neurological findings like apraxia, deceleration of head growth and increasing spasticity and scoliosis have reported also.
  • Cognitive and mental delays, breathing difficulties, sleeping trouble and seizures are common also.
  • Speech delay is common too.
  • Majority of these patients will have a mental age of eight month babies. For this reason, the patient will not have social engagement.


Rett Syndrome management:

There is no cure or precise treatment for this syndrome. The goal of the treatment is to preserve physical and psychosocial functions, enhancing quality of life, and provide education and support to families.

Balance-stimulating floor activities like dancing with music or walking on a line may beneficial in the treatment of ataxia and apraxia also. Weight bearing exercises may helpful for apraxia treatment too. Using of therapy balls may help to increase hand functions also. Hand splints may helpful to prevent from hand splinting and hand wringing also.

Weekly hydrotherapy treatment can increase range of motion.

Some drugs like phenytoin, carbamazepine and phenobarbital can used for seizure activity, improve breathing problems, and reduce sleeping difficulties. Consult to your doctor for any treatments.

Rett Syndrome life expectancy:

Some patients, approximately %10 may die before 20 years of age due to various accidents, pneumonia and seizures. But, these patients usually lives more than 20 years. The average life expectancy for females is approximately 40 to 45 years. With good support, individuals can live over 70 years also.

Females will live longer than males, because they have two X chromosomes. The affected males will die before birth or in early infancy, because of having one X chromosome.

To read about Alport Syndrome click this link

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