Rett Syndrome, (RTT) is the leading cause of severe disability in females, with approximately 1:10 000 females born worldwide being affected by this disease.
RTT is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.
RTT is a neurodevelopmental disorder caused by a mutation in the MECP2 gene on the X chromosome and in atypical RTT a mutation in the CDKL5 or FOXG1 genes. Boys with RTT do not usually survive after birth as boys only have one X chromosome and therefore lack a backup healthy X chromosome that could compensate for the defective one.
The unique disease progression begins with halted developmental progress after an apparently uneventful first 6 - 18 months of life. Development then becomes abruptly stagnated; frank regression occurs in growth, motor, language and social skills, which leads to either partial or complete loss of these skills.
Individuals with RTT typically survive at least into middle age.
RTT has certain hallmark observable traits that distinguish it from other neurodevelopmental disorders.
The most noticeable observations are:
Partial or complete loss of acquired purposeful hand skills
Partial or complete loss of acquired spoken language
Repetitive hand movements (such as hand wringing, clapping or rubbing)
Gait abnormalities (including unsteady, wide-based, stiff legged walk)
Other features of RTT may include:
Abnormal muscle tone
Bruxism (teeth grinding)
Cold hands and feet
Gastrointestinal dysfunction (i.e., constipation and gastroesophageal reflux)
Head growth deceleration, as measured by head circumference
Intense use of eyes for communication
QT interval prolongation
Small hands and feet
Please see the International Rett Syndrome Foundation website of more information and view these YouTube clips: http://www.youtube.com/watch?v=gg-kM1_f2gg
Exciting research is taking place world-wide to find effective treatments and cure Rett Syndrome.
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