Discovery This Neurological Disorder or Disease Discovered

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 them bluish-red in color Gastrointestinal difficulties, such as reflux, constipation, poor absorption of nutrients Abnormal sleep patters Eye disease or shrinking of optic nerves Muscle rigidity Small feet Irritability, agitation, nervousness IV.

Treatment and Other Interesting Facts About the Disorder No known or developed cure at present Medications for seizures when they occur Occupational therapy, physiotherapy and hydrotherapy recommended for prolonging mobility Intervention programs to increase social interaction and increasing attention span Music therapy to reduce repetitious hand movements Equipment tailored for individual requirements such as braces to inhibit scoliosis, splints for controlling hand movements Despite severe impairments, majority believed to be able to reach adulthood (up to ages 40s), but with increased risk of death Occurrence of sudden and unexplained death possible with.