Rett syndrome

Rett syndrome is a neurological disorder with severe mental retardation seen among all ethnic groups. It primarily affects females and a small number of males particularly among familial cases. Rett syndrome causes early developmental stagnation, and later striking cognitive and motor delays, followed by partial recovery and cognitive stability. Mutations in the MeCP2 gene causing RS are identified in a majority of the patients. In 99.5% of cases, the disease arises from sporadic de novo mutations. Mutational analysis identifies a subgroup of patients both males and females with milder symptomatology. Currently, specific therapies are unavailable for RS. In view of the nonprogressive nature of this disease in later stages, symptomatic care and intensive habilitation are extremely important and needs to be maintained.