26 Jul 2016 While it's true that Rett Syndrome is mainly a girls' disorder, it's not true that boys can't have it. In fact, those of us active on Facebook have

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6,9 Some boys with Rett syndrome, however, do live past infancy, likely for one of three reasons: Mosaicism (pronounced moh-ZEY-uh-siz-uhm ), a condition in which individual cells within the same person have a different genetic makeup. This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology.

Rett syndrome is one such disorder which mostly affects females but is also found in males. According to the current global statistics, 1 in every 10,000 females born is found to have Rett syndrome. The current research works are being directed towards finding the exact cause of Rett syndrome and how to prevent the occurrence of the disease.

Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections between nerve cells (neurons). all of those with Rett syndrome and are therefore not required components of the diagnosis. Gender and Cultural Factors The occurrence of Rett syndrome has been observed to exist fairly equally across all racial, ethnic, and cultural groups but has been noted to be significantly more common in female births as opposed to male births.

It has been more than 50 years since Andreas Rett first described the unusual clinical entity that came to be known as Rett syndrome (Online Mendelian Inheritance in Man number 312750), and 20 years since the discovery that Rett syndrome is caused by mutations in X-linked MECP2.

It is imperative to do a genetic evaluation of males presenting with Rett-like symptoms and to be aware of the diverse phenotypic variation in RTT. 2015-08-09 The incidence of Rett syndrome in males is unknown, partly owing to the low survival of male fetuses with the Rett syndrome-associated MECP2 mutations, and partly to differences between signs caused by MECP2 mutations and those caused by Rett's. Females can live up to 40 years or more. 2005-11-01 Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills and evolution towards impairment of brain and motor functions and multi-organ dysfunction. One diagnosis which should be considered in girls is Rett syndrome caused by haploinsufficiency of the MECP2 gene located on chromosome Xq (male Rett syndrome is rare but possible) [58, 59]. It is an X-linked dominant disorder, with presumed lethality in males.

It is estimated to affect about 1 in 12,000 girls born each year and is only rarely seen in boys. Can Rett Syndrome Affect Males? Until recently, boys were not thought to experience Rett syndrome. The MECP2 gene responsible for the occurrence of the disorder resides on the X chromosome.
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1 Hagberg and colleagues increased awareness of the disorder in the English medical literature in 1983 with a further description of the condition in 35 girls with strikingly similar clinical features of “progressive autism, loss of purposeful hand movements, ataxia, and acquired microcephaly”. 2 It is unclear how these changes lead to the specific features of Rett syndrome.

Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. The incidence of Rett syndrome in males is unknown, partly owing to the low survival of male fetuses with the Rett syndrome-associated MECP2 mutations, and partly to differences between signs caused by MECP2 mutations and those caused by Rett's.
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Rett syndrome. This genetic syndrome happens in about one in every 10,000- 12,000 girls. It very rarely affects boys, but when it does, they are always affected

Mosaicism describes the presence of two different populations of cells in the body. In some cells of males Less severe MECP2 mutations. Some Rett Syndrome In Males Why Males Rarely Have Rett Syndrome.

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males.

It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

It is now believed, however, that the prevalence rate of Rett may be much higher. Although rare, it is possible for boys to also have the disorder. Children with the Logan Byrne has a highly unusual male case of Rett Syndrome.