Cognitive and neuropsychiatry analysis in Myotonic Dystrophy Type 1

• Grant number: 17/22904-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: October 01, 2018
• End date: September 30, 2019
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Acary Souza Bulle Oliveira
• Grantee: Vitor Dias Gomes Barrios Marin
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Myotonic dystrophy type 1 (DM1) is a genetic disease, characterized by variable expressivity and trinucleotide expansion. Subjects with DM1 may present impairments in various body systems: musculoskeletal, cardiovascular, respiratory, endocrine and nervous, which makes its clinical characterization complex. White and gray matter morphologic alterations and glucose hypometabolism have been described, mainly in the frontal lobes. Studies revealed cognitive impairments involving executive functions, nomination and visual memory, as well as behavioral alterations, mainly apathy, depression and anxiety. Relations between image and clinical findings are yet to be elucidated and the characterization of the cognitive and neuropsychiatric is still being built, especially in the context of Latin America. This project aims to evaluate the cognitive and neuropsychiatric profile of patients who suffer from DM1, through the application of a neurocognitive battery and the analysis of structural and metabolic images of the brain. Fifty patients that have confirmed diagnosis of DM1 (adult form) and that are regularly followed in the Neuromuscular Diseases Ambulatory from UNIFESP will be recruited.