Keywords
Mutation
Autosomal recessive disease
How to Cite
Abstract
Introduction: Crisponi Syndrome refers to a rare autosomal recessive disease, usually recognized in the neonatal period. It is characterized by muscle contractions in response to stimuli, hyperthermia, salivation, organ failure and inability to swallow. Despite being rare, it is a serious disease and impacts on the lives of affected patients. Objectives: The present study aims to provide a review of the articles published in the literature that address Crisponi Syndrome, with the purpose of fostering improvements aimed at the disease and contributing to the formation of scientific knowledge. Methodology: To achieve this objective, the authors carried out a systematic review of the literature, using descriptors related to the theme proposed in this review. The articles were selected carefully, aiming for the veracity and reliability of this work. Results: The analysis of the selected studies revealed a variety of information about Crisponi Syndrome, such as its etiology, clinical characteristics and possible symptomatic treatments. Conclusion: This review provided a comprehensive overview of Crisponi Syndrome. However, it highlights the importance of continuous research into the disease in order to improve clinical and scientific results.
References
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Copyright (c) 2024 Bianca Sousa Belfort Ferreira, Fernanda Karolynne Sousa Coimbra, Luis Fernando Nogueira Furtado, Alynne Bayma dos Santos, Ana Carolina Celidonio Almeida Campos, Jonas Wagner de Almeida Soares, Ludmyla Assunção de Paula, Luis Eduardo Rodrigues Pereira, Mikaele Nala Costa dos Santos, Elias Freitas de Carvalho, Pedro Inojosa Ferreira da Silva, Alyson Mikael de Oliveira Sá, Andreya Lorena Luso de Almeida, Pedro Igor de Sousa Rios, Carine Novaes Paes Leme
