ALL ABOUT RETTS: symptoms, CAUSES, AND THE LIFESTYLE
AS A STATSTIC:
- 1 in 10,000 females; in
the United States approximately 16,000 children and women are affected
(similar numbers to ALS, Huntington’s, and Cystic Fibrosis).
Rett Syndrome is classified as a “rare disease” (by definition, less than
200,000 affected individuals in the US) by the Office of Rare Diseases of the
National Institutes of Health
Rett syndrome signs and symptoms include:
- Slowed growth. Brain growth slows after birth. Smaller than normal head size is usually the first sign that a child has Rett syndrome. It generally starts to become apparent after 6 months of age. As children get older, delayed growth in other parts of the body becomes evident.
- Loss of normal movement and coordination. The most significant loss of movement skills (motor skills) usually starts between 12 and 18 months of age. The first signs often include a decrease of hand control and a decreasing ability to crawl or walk normally. At first, this loss of abilities occurs rapidly and then continues more gradually.
- Loss of communication and thinking abilities. Children with Rett syndrome typically begin to lose the ability to speak and to communicate in other ways. They may become uninterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of speech. Over time, most children gradually regain eye contact and develop nonverbal communication skills.
- Abnormal hand movements. As the disease progresses, children with Rett syndrome typically develop their own particular hand patterns, which may include hand wringing, squeezing, clapping, tapping or rubbing.
- Unusual eye movements. Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking or closing one eye at a time.
- Breathing problems. These include breath-holding (apnea), abnormally rapid breathing (hyperventilation), and forceful exhalation of air or saliva. These problems tend to occur during waking hours, but not during sleep.
- Irritability. Children with Rett syndrome become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly and last for hours.
- Abnormal behaviors. These may include sudden, odd facial expressions and long bouts of laughter, screaming that occurs for no apparent reason, hand licking, and grasping of hair or clothing.
- Seizures. Most people who have Rett syndrome experience seizures at some time during their lives. Symptoms vary from person to person, and they can range from periodic muscle spasms to full-blown epilepsy.
- Abnormal curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It typically begins between 8 and 11 years of age.
- Irregular heartbeat (dysrhythmia). This is a life-threatening problem for many children and adults with Rett syndrome.
- Constipation. This is a common problem in people with Rett syndrome
THE PROGRESSION:
- How the disease progresses: The child generally appears to grow and
develop normally, before symptoms begin. Loss of muscle tone is usually
the first symptom. Other early symptoms may include a slowing of development,
problems crawling or walking, and diminished eye contact. As the syndrome
progresses, a child will lose purposeful use of her hands and the ability to
speak. Compulsive hand movements such as wringing and washing follow the loss
of functional use of the hands. The inability to perform motor functions is
perhaps the most severely disabling feature of Rett syndrome, interfering with
every body movement, including eye gaze and speech.
This video shows from gene mutation to birth how Retts progresses and some possible solutions for it.
THE CAUSES:
Retts is caused by mutations in the X chromosome called MECP2. There are over 200 different possible disorder causing mutations, but none are as severe as the mutation that causes Retts
Retts is caused by mutations in the X chromosome called MECP2. There are over 200 different possible disorder causing mutations, but none are as severe as the mutation that causes Retts
![Picture](/uploads/5/1/4/1/51415539/2185550.png?417)
THIS IS A DIAGRAM OF HOW THE MUTATION LOOKS