CNS involvement in myotonic dystrophy type 1: does sex play a role?

• DOI: 10.3389/fneur.2024.1399898
• Publication Date: 2024-05-09T04:37:30Z
• Authors: Joana Garmendia; Garazi Labayru; Jone Aliri; Adolfo López de M...; Andone Sistiaga
• Keywords: 03 medical and health sciences; 0302 clinical medicine; Neurology; inheritance pattern; sex; CTG; Neurology. Diseases of the nervous system; DM1; RC346-429; myotonic dystrophy type 1; genomic imprinting

Introduction Myotonic dystrophy type 1 (DM1) is a hereditary neuromuscular disorder affecting the central nervous system (CNS). Although sex differences have been explored in other disorders, research on this topic DM1 remains limited. The present study aims to analyze (both patient’s and disease-transmitting parent’s sex) with focus CNS outcomes. Methods Retrospective data from 146 non-congenital patients were analyzed, including clinical, molecular, neuropsychological, neuroradiological data. Sex inheritance pattern analyzed using t-tests, ANOVA analyses conducted address interactions. Results Overall, no significant observed except certain cognitive domains. However, individuals maternal showed larger CTG expansion size, lower estimated IQs, poorer performance visual memory, executive functions, language domains than those paternal inheritance. Notably, IQ was independently influenced by expansion. Discussion This first delve into While results revealed absence of sex-specific clinic-molecular profile, more substantial between patterns. hypothetical existence genomic imprinting its potential mechanism are discussed. These findings hold implications for aiding clinical management improving genetic counseling predicting disease severity prognosis.