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Rett syndrome: characteristics, treatment and life expectancy

by Alivia Nyhan
Published: Last Updated on

Many diseases capable of conditioning a person’s life become evident from birth. On the other hand, other conditions are revealed when some stage of a child’s development is altered in a particular way or said disease evolves little by little until beginning to compromise bodily functions. Rett syndrome is a genetic disease that mainly affects girls and shows more and more symptoms over the years. Treatment involves the participation of a multidisciplinary team to prepare the girls and their parents for all that this condition implies. In this FastlyHealarticle, we will talk about one of the leading causes of intellectual disability in girls, the Rett syndrome: general characteristics, treatment, and life expectancy.

What is Rett syndrome?

Rett syndrome is a childhood degenerative neurological condition that affects only girls. It is not evident at birth but develops over the years until it usually manifests before four. It is the second most common cause of intellectual disability in girls and women.

Rett syndrome: causes

The origin of Rett syndrome is genetic and is due to a mutation in the X chromosome, which is double in women, thus explaining the high prevalence of this syndrome in women. Although males can be born with this syndrome, the characteristic mutation of the disease is related to embryonic death or a very short life expectancy for the male newborn, which is why this disease is not usually seen in children.

There is a particular hereditary component of Rett syndrome since the mutation has been demonstrated in women who do not manifest the disease, which remains unexplained. However, the chances of having two daughters with the syndrome are 1%.

Rett syndrome symptoms

One of the main manifestations of Rett syndrome is the loss of motor skills, although, during the first years of life, their movements may seem completely normal. Usually, the loss of motor skills will be accompanied by loss of communication skills and poor cranial development, leading to respiratory disturbances and seizures.

Another of the most critical manifestations of Rett syndrome is intellectual disability, which can make affected people dependent on someone else’s care. Depending on the severity of the symptoms, Rett syndrome is usually classified from a stage I, which usually begins between 6 and 18 months of age when the delay in normal development starts to become evident, to a stage IV after several decades, during which completely loses the ability to walk, making those affected dependent on a wheelchair.

Rett syndrome: treatment

As it is a disease caused by a mutation in a gene, Rett syndrome has no treatment. The guidelines indicated by the doctor are generally aimed at supporting the signs and symptoms and delaying the motor regression as much as possible. Medications such as L-dopa are shown to slow down motor disorders, and drugs are also often indicated to prevent seizures, facilitate sleep, and reduce breathing difficulties. Depending on the stage of motor impairment, different equipment or aids may be needed, which can range from splints to a wheelchair.

multidisciplinary treatment that includes physical therapy, hydrotherapy, nutritional plans, and psycho-pedagogical treatment, among many others, is required to give affected girls as many tools as possible to cope with the disease more quickly.

Rett syndrome: life expectancy

Rett syndrome is characterized by a pattern of evolution that can vary significantly from one girl to another; however, the earlier the symptoms appear, the faster and more severe the development of the disease will be. Disease.

There are many possibilities that a girl with Rett syndrome will live until after 25 years of age. However, the life expectancy is usually between 40 and 50 years of age, although there are no studies that can verify these numbers correctly. In men, on the other hand, it is usually a condition that is not compatible with life, which is why an embryonic or neonatal death usually occurs.

This article is merely informative. At FastlyHeal .com, we do not have the power to prescribe medical treatments or make any diagnosis. We invite you to see a doctor if you present any condition or discomfort.

If you want to read more articles similar to Rett Syndrome: characteristics, treatment, and life expectancy, we recommend that you enter our Genetic Disorders category.

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