Rett Syndrome

Rett Syndrome is a rare neurological disorder that primarily affects females. It was first identified by Dr. Andreas Rett in 1966, and it is caused by a mutation in the MECP2 gene, which plays a crucial role in the development of the nervous system. The symptoms of Rett Syndrome typically appear around 6 to 18 months of age and progress rapidly. These symptoms can include seizures, breathing abnormalities, cognitive and motor disabilities, and repetitive movements such as hand wringing, clapping, or tapping. As there is no cure for Rett Syndrome, current treatment options focus on managing the symptoms and improving the quality of life for the affected child and their family. Therapies such as physiotherapy, speech therapy, and occupational therapy are commonly used to target specific areas of function and to help with mobility and communication. Research into Rett Syndrome is ongoing, with a focus on understanding the underlying causes of the disease at a molecular level. This research has led to the identification of new drug targets and potential therapies, including MECP2 gene replacement therapy and the use of neurotrophic factors to support brain function. Rett Syndrome is a complex and challenging neurological disorder, but with continued research and therapy, there is hope for improved outcomes for affected individuals and their families.


From: Neurobiology

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