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Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls. [4] Symptoms include impairments in language and coordination, and repetitive movements. [4]
Studies, funded by the International Rett Syndrome Foundation, demonstrate that neurological deficits resulting from loss of MeCP2 can be reversed upon restoration of gene function. These studies are quite exciting because they show that neurons that have suffered the consequences of loss of MeCP2 function are poised to regain functionality ...
In the paper, she and her team demonstrated that Rett syndrome was an X-linked dominant disorder, meaning that when 1 of the 2 copies of the MECP2 gene is abnormal, Rett syndrome will result. [ 12 ] Zoghbi's team keeps studying MECP2, and discovered in 2004 that overexpressing the protein in mouse led to an autism -like neurological disorder ...
Dr. Huda Zoghbi is a prominent Rett syndrome researcher. She worked with NBC News correspondent Richard Engel and his son Henry who died. She shared memories, his impact.
Andreas Rett (2 January 1924 – 25 April 1997) was an Austrian neurologist and author. He is famous for his research on neurodevelopmental disorders, particularly for his description of Rett syndrome, which was named after him, and for pioneering treatment based on the belief that disabled children also have a right to fulfillment of their physical, emotional, and psychological needs.
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Trofinetide is indicated for the treatment of Rett syndrome in people two years of age and older. [3] [8] Rett syndrome is a rare, genetic neurological and developmental disorder that affects the way the brain develops. [4] People with Rett syndrome experience a progressive loss of motor skills and language. [4]
CDD is a rare condition although >1,000 cases have been reported worldwide; 80-90% of the cases are female [4] While originally classified as an atypical variant of Rett syndrome, CDKL5 Deficiency Disorder (CDD) is an independent disorder and results from a pathogenic variant in a different gene (CDKL5 in CDD; MECP2 in Rett).