Methyl-Cpg

Rett Syndrome
It is a neurological disorder in which early development is normal, but between 6 to 18 months of life there is a partial or complete loss of manual skills and language.
It occursalmost exclusively in girls, than have a second chromosoma X, which supplies this deficiency  and may be misdiagnosed as autism or cerebral palsy.  The disease affects about 1 in 10,000 girls. Groups ofthe disease have appeared within families and certain geographic regions, including Norway, Sweden and northern Italy.
CAUSES
Studies have linked many cases of Rett syndrome with a defect in thegene-binding protein 2-methyl-CpG (MeCP2), located on chromosome X.
Children are aborted because they do not have a second X chromosome to compensate for this deficiency.
SYMPTOMS
apraxia
Breathingproblems tend to worsen with stress, the breathing is usually normal during sleep and abnormal while awake
Running shaky, unstable or rigid, or walking on the toes
Seizures
The head growth slowsbeginning at approximately 5 to 6 months
Loss of normal sleep patterns
Loss of purposeful movements of the hand, for example, the grasp used to pick up objects is replaced by repetitive hand motionslike hand wringing or constant placement of hands in the mouth
Loss of social engagement
Constipation and gastroesophageal reflux disease (GERD) continuous and serious
Poor circulation that canlead to cold arms and legs and bluish
Severe problems in language development
TREATMENT MAY INCLUDE

• Assistance with feeding
• Methods to treat constipation and gastroesophageal reflux
•Physioterapy for hands in order to prevent constrict
• Weight bearing exercises for those with scoliosis
Medications such as carbamazepine
L-carnitine, which can help improve language skills,muscle mass, alertness, as well as energy and quality of life while decreasing constipation and daytime sleepiness
L-dopa for motor rigidity in later stages of the disease
The disease progresses...