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

ABSTRACT:

Background and purpose

Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations. Although muscular impairment is central to DM1, a premanifest DM1 form has been proposed for those characterized by the absence of muscle signs in precursory phases. Nevertheless, subtle signs and/or symptoms related to other systems, such as the central nervous system (CNS), may emerge and progress gradually. This study aimed to validate the premanifest DM1 concept and to characterize and track affected individuals from a CNS centred perspective.

Methods

Retrospective data of 120 participants (23 premanifest DM1, 25 manifest DM1 and 72 healthy controls) were analysed transversally and longitudinally (over 11.17 years). Compi

SUBMITTER: Garmendia J 

PROVIDER: S-EPMC10092190 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature