[Ocular findings in patients with Steinert myotonic dystrophy].

Przegl Lek

Klinika Okulistyki Akademii Medycznej w Białymstoku.

Published: July 2007

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.

Download full-text PDF

Source

Publication Analysis

Top Keywords

steinert myotonic
8
[ocular findings
4
findings patients
4
patients steinert
4
myotonic dystrophy]
4
dystrophy] authors
4
authors myotonic
4
myotonic dystrophies
4
dystrophies steinert
4
myotonic dystrophy
4

Similar Publications

Ovarian response in preimplantation genetic testing for myotonic dystrophy type 1.

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 PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF
Article Synopsis
  • Researchers investigated cognitive impairments in adults with Myotonic dystrophy type 1 (DM1), which varied significantly across studies, aiming to identify different cognitive profiles linked to clinical and behavioral traits.
  • A study with 124 DM1 patients conducted various cognitive tests and found three distinct cognitive clusters: one with preserved functions, one with executive function deficits, and another with severe cognitive impairments.
  • Younger patients with more recent onset and higher education levels were more likely to be in the cluster with preserved cognitive functions, highlighting the influence of age and DM1 duration on cognitive abilities and suggesting a potential neurodegenerative process in DM1.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!