The authors present one of many myotonic dystrophies: Steinert myotonic dystrophy (Steinert disease), which is a disease occuring seldom, and causing a lot of problems during the diagnostic and treatment process. Genetic factors, results of the histopathology tests, main clinical symptoms, particularly ophtalmic manifestation are described in this article.
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J Assist Reprod Genet
December 2024
Service de Médecine de la Reproduction et Préservation de la Fertilité, Hôpital Antoine Béclère, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, F-92140, Clamart, France.
Purpose: To evaluate ovarian stimulation response in couples undergoing preimplantation genetic testing (PGT-M) for myotonic dystrophy type 1 (DM1) METHODS: Retrospective, observational, multicentric study. Parameters of ovarian response and PGT-M outcomes were compared according to the DM1-affected patient (female or male). A total of 229 couples underwent at least one controlled ovarian hyperstimulation cycle for the PGT-M procedure.
View Article and Find Full Text PDFPediatr Neurol
December 2024
Health and Social Research Center, Universidad de Castilla-La Mancha, Cuenca, Spain; Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Talca, Chile.
Background: Myotonic dystrophy type 1 (DM1) is caused by mutations in the DMPK gene, and it is associated with cognitive deficits and intelligence below normative values. The objective of this systematic review and meta-analysis was to estimate the overall intelligence and proportion of intellectual development disorder (IDD) in the population with DM1 and its association with its onset.
Methods: Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to January 2023.
Muscle Nerve
November 2024
Department of Neurology, Faculty of Medicine and University Hospital of Cologne, Cologne, Germany.
Introduction/aims: Myotonia is a key symptom of myotonic dystrophies (DM), and its quantification is challenging. This exploratory study evaluated the utility of tissue Doppler ultrasound (TDU) to assess myotonia in DM.
Methods: Twelve DM patients (seven type-1 DM [DM1] and five type-2 DM [DM2]) and 20 age-matched healthy subjects were included in this cross-sectional study.
J Neurol
July 2024
U1172-LilNCog-Lille Neuroscience & Cognition, Univ. Lille, Inserm, CHU Lille, 59000, Lille, France.
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