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The foot and Rett Syndrome

Discussion in 'Pediatrics' started by NewsBot, Jan 6, 2018.

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  1. NewsBot

    NewsBot The Admin that posts the news.

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    Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study
    Hanneke E. Borst et al
    Journal of Developmental and Physical Disabilities: 02 January 2018
     
  2. Admin2

    Admin2 Administrator Staff Member

    Rett syndrome

    Rett syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females.[2] Symptoms include problems with language, coordination, and repetitive movements.[2] Often there is slower growth, problems walking, and a smaller head size.[2][3] Complications can include seizures, scoliosis, and sleeping problems.[2] Those affected, however, may be affected to different degrees.[3]

    Rett syndrome is due to a genetic mutation of the MECP2 gene.[2] This gene occurs on the X chromosome.[3] Typically it develops as a new mutation, with less than one percent of cases being inherited from a person's parents.[2][3] It occurs almost exclusively in girls.[2] Boys who have a similar mutation typically die shortly after birth.[3] Diagnosis is based on symptoms and can be confirmed with genetic testing.[3]

    There is no known cure for Rett syndrome.[3] Treatment is directed at improving symptoms.[3] Anticonvulsants may be used to help with seizures.[3] Special education, physiotherapy, and braces may also be useful.[3] Many people with the condition live into middle age.[3]

    The condition affects about 1 in 8,500 females.[2] Andreas Rett, a pediatrician in Vienna, first described the condition in 1966.[3][5] As his writings were in German, they did not become widely known in the English-speaking world.[6] Bengt Hagberg, a Swedish pediatrician, published an English article in 1983 and named the condition after Rett.[6] In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.[6][7]

    1. ^ Davis, Andrew S. (25 October 2010). Handbook of Pediatric Neuropsychology. Springer Publishing Company. ISBN 082615736X. Archived from the original on 5 November 2017. Rett initially called this syndrome cerebroaatrophic hyperammonemia, but the elevated ammonia levels in the bloodstream were later found to be only rarely associated with this condition (can Acker, Loncola, & Can Acker, 2005). 
    2. ^ a b c d e f g h i j k l m "Rett syndrome". Genetics Home Reference. December 2013. Archived from the original on 14 October 2017. Retrieved 14 October 2017. 
    3. ^ a b c d e f g h i j k l m n o p "Rett Syndrome Fact Sheet". National Institute of Neurological Disorders and Stroke. Archived from the original on 14 October 2017. Retrieved 14 October 2017. 
    4. ^ "Rett Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 19 February 2017. Retrieved 14 October 2017. 
    5. ^ Rett, A. (10 September 1966). "[On a unusual brain atrophy syndrome in hyperammonemia in childhood]". Wiener Medizinische Wochenschrift (in German). 116 (37): 723–726. ISSN 0043-5341. PMID 5300597. 
    6. ^ a b c Percy, Alan (January 2014). "The American History of Rett Syndrome". Pediatric Neurology. 50 (1): 1–3. doi:10.1016/j.pediatrneurol.2013.08.018. PMC 3874243Freely accessible. 
    7. ^ Amir, Ruthie; Van den Veyver, Ignatia; Wan, Mimi; Tran, Charles; Francke, Uta; Zoghbi, Huda (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nature Genetics. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. 
     
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