Discovery
This neurological disorder or disease discovered and first described in 1966 by an Austrian physician, Dr. Andreas Rett
A paper published on the disorder in an English medical journal in 1983 by Dr. Bengst Hagberg and associates. Global awareness established and thengrew. First diagnoses of unidentified cases made.
Disorder initially observed to affect only girls of different races worldwide
Detailed Cause/s
Mutations in an X chromosome gene called MeCP2.
First discovered at the laboratory by Dr. Huda Zoghbi, a neurogeneticist, in October 1999
Primarily affects girls but recently found to affect boys as well
Condition between 6 to 18 months and progresses in stages
A developmental, not a genetic or nutritional, disorder
Affects 1 in 10,000 to 23,000 females worldwide
Apparently normal pregnancy and delivery for the mother and normal development of voluntary movements to the affected person
Symptoms
Deceleration of head growth between 6 and 18 months
Unexplained loss of normally acquired and appropriate hand skills at 5 to 30 months
Disappearance of verbal language or severely impaired speech
Social withdrawal
Severely impaired understanding of language
Severe retardation of intellectual development
Disappearance of learned behavioral, social and voluntary motor skills
Constant and defined pattern of hand movements, such as wringing, hanging, squeezing, clapping, tapping, washing, rubbing and mouthing during wakefulness, appearing after the loss of learned hand skills
Between 1 and 4 years, a jerky gait with locking of joints into one position, reducing the ability to move to another position
Wide-based and stiff gaits if capable of walking
Shaking of the torso when disturbed
Breathing irregularities and hyperventilation
Seizures
Grinding of the teeth
Scoliosis
Decreased body fat and muscle mass and tone
Poor circulation in the legs and feet, making…
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