NEUROFIBROMATOSE E SEUS DESAFIOS

Abstract

Genetic disorders results from alterations in genes responsible for protein production in the body. Among these diseases, neurofibromatoses stand out, identified through genetic experiments, characterized primarily by the formation of neurological disorders. Neurofibromatosis can be divided into three types: type 1, type 2, and schwannomatosis. The diagnosis of neurofibromatosis is based on clinical criteria, such as the presence of café-au-lait spots, neurofibromas, and optic gliomas, along with genetic tests to identify the genes for Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2). Early diagnosis is of utmost importance to initiate proper treatment and control the disease's progression. The treatment of neurofibromatosis is carried out by a multidisciplinary team, including neuroscientists, oncologists, surgeons, and other medical professionals. Treatments encompass surgery, radiotherapy, chemotherapy, and specific medications. Gene therapy appears to be a promising approach in disease treatment, allowing for the correction or replacement of faulty genes. However, there are barriers and limitations to developing more effective treatments, such as disease heterogeneity, ethical and regulatory issues, and the need for investment in research and interinstitutional collaboration. Awareness of the disease is crucial to encourage early diagnosis and ensure access to effective treatment. Neurofibromatosis is a highly complex genetic disorder that requires a multidisciplinary approach to diagnosis and treatment, and progress in gene therapy and collaborative research is essential to enhance the quality of life for treated patients.