Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study

• DOI: 10.1111/ene.15604
• Publication Date: 2022-10-18T15:58:27Z
• Authors: Joana Garmendia; Garazi Labayru; Miren Zulaica; Jorge Villanúa; Adolfo López de M...; Andone Sistiaga
• Keywords: 03 medical and health sciences; 0302 clinical medicine; Muscle and NMJ disorders; Humans; Myotonic Dystrophy; White Matter; Follow-Up Studies; Retrospective Studies; 3. Good health

Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that characterized by heterogeneous manifestations. Although muscular impairment central to DM1, premanifest DM1 form has been proposed for those the absence of muscle signs in precursory phases. Nevertheless, subtle and/or symptoms related other systems, such as nervous system (CNS), may emerge progress gradually. This study aimed validate concept characterize track affected individuals from CNS centred perspective.Retrospective data 120 participants (23 25 manifest 72 healthy controls) were analysed transversally longitudinally (over 11.17 years). Compiled included clinical, neuropsychological neuroradiological (brain volume white matter lesion, WML) measures taken at two time points.Manifest showed significantly more molecular affectation, worse performance on domains, lower grey volumes different pattern WMLs than DM1. The latter was slightly controls regarding brain WMLs. Additionally, daytime sleepiness expansion size explained 50% variance deterioration follow-up individuals.Premanifest alterations, which suggests involvement early disease. Based data, debate emerges around existence 'non-muscular DM1' subtype phase, stage