How is Rhett's Syndrome diagnosed. What are the symptoms,and what would be an expected lifespan(average)?

Answer 1

Rett syndrome is a disorder of the nervous system that leads to regression in development, especially in the areas of expressive language and hand use. In most cases, it is caused by a genetic mutation.
Rett Syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.

The gene associated with Rett syndrome is on the X-chromosome. This gene contains instructions for creating methl-CpG-binding protein 2 (MeCP2), a protein that regulates the manufacture of various other proteins.

Mutations in the MeCP2 gene causes these other proteins to be produced incorrectly, which damages the maturing brain. Studies link mutations in this gene to 75% of Rett syndrome cases.

Females have two X chromosomes, so even when one has this significant mutation, the other X chromosome provides enough normal protein for the child to survive.

Males conceived with this mutation do not have a second X chromosome to compensate for the problem. Therefore, the mutation is usually lethal, leading to miscarriage, stillbirth, or very early death.
Most cases of the mutation arise spontaneously. However, there also seem to be some clusters within families and certain geographic regions, for example Norway, Sweden, and Northern Italy.
Hypotonia (floppy arms and legs) -- frequently the first sign
Slowing head growth beginning at approximately 5-6 months of age
Developmental regression
Severely impaired language development
Loss of purposeful hand movements; for example, the pincer grasp used to pick up small objects is replaced by repetitive hand motions like hand wringing or constant placement of hands in mouth
Apraxia -- partial or complete inability to carry out purposeful movements
Shaky, unsteady, or stiff gait; or toe walking
Loss of social engagement
Seizures (1/3 of patients)
Intermittent hyperventilation with a disorganized breathing pattern, air swallowing, and breath holding
Breathing abnormalities tend to worsen with stress; breathing is usually normal during sleep and abnormal while awake
Scoliosis
Loss of normal sleep patterns
Poor circulation that can lead to cold and bluish arms and legs, and small feet
Intellectual disabilities and learning difficulties (assessing cognitive skills in those with Rett syndrome, however, is difficult because of the speech and hand motion abnormalities)
Gastrointestinal complaints including ongoing, severe constipation and gastroesophageal reflux (GERD)
Sleep disturbances
Excessive saliva and drooling
Life expectancies are not well studied, although survival at least until the mid-20s is likely. The average life expectancy of a girl with Rett syndrome may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.

Answer 2

Rett Syndrome Life Expectancy

Answer 3

Big Pharma Companies Hate This...

Hello, my name is Ken Drew...

In this short and controversial health exposé, I’m going reveal the one amazing little secret, long suppressed by Big Pharma, that will bulletproof your body against the scary illnesses like Cancer, Heart disease, Diabetes, Alzheimer's, Arthritis and more....and its something that you can do right now in your home.

Without ever popping a single pill, getting any dreaded needle, prescriptions of any kind. Even sidestepping alternative therapies that never seem to work. Ineffective supplements that waste time and frustrate you to no end. Not to mention tear a hole in your wallet...
...Or even put you in an early grave.

Think of how you felt today - http://reversediseasetoday.info/young-again-424.html

Answer 4

Forget anything you have ever been told about Diabetes. And get this - it has nothing to do with insulin, exercise, diet or anything else you've heard in the past. It's all based on latest breakthrough research that Big Pharma is going Stir Crazy to hide from you. Visit here : https://tinyurl.im/aH1U4 to find out what all the fuss is about.

Answer 5

I have Asperger's syndrome myself. I suspect that my husband has it too, but he has not been officially diagnosed.

For the best answers, search on this site https://smarturl.im/aDBeU