X-Chromosome Linked Rett Syndrome
DOI:
https://doi.org/10.37591/rrjon.v11i1.2463Keywords:
Genetic disorder, majorly in girls, nomy, physiotherapy, speechAbstract
Rett Syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females synonymized as “Cerebroatrophic hyperammonemia”. It is due to genetic mutation of the MECP2 gene present on the X-chromosome. Develops as a new mutation with <1% of cases being inherited from a person’s parents, mainly among girls. Boys with similar mutation typically die shortly after birth. Characterized by less eye contact, delays in gross motor skills, decreasing head growth, and lasts for a few months to years. It is extremely rare and if occurs nutritional support can be beneficial. Supportive treatment includes laxative, sedative, vitamin, anticonvulsant, etc. There are fewer than 5000 cases per year (India). Speech, occupational and physical therapy can be helpful to prevent this syndrome. Nomy is a surgical option which can be used to treat RTT.
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