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