Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2

Journal of Neurology
Federica MontagneseBenedikt Schoser

Abstract

This study aims to provide a detailed clinical characterization of a large cohort of myotonic dystrophy type 2 (DM2) patients investigating the influence of age and gender as modifying factors of DM2 phenotype. A retrospective study was conducted on 307 patients with genetically confirmed DM2. The following data were analyzed: (1) demographics, (2) clinical features (first symptom, muscular complaints, and multisystemic involvement), (3) diagnostics (serological tests, electromyography, and muscle biopsy). In this cohort (186 females, 121 males), a proximal weakness was the leading symptom at onset (55.4%), followed by myalgia (35.5%) and myotonia (25.4%). Proximal weakness was more common in women than men (64.9 vs. 43.8%, p = 0.0006), whereas being male was associated with higher odds for developing myalgia [OR 2.94 (95% CI 1.53-5.67)]. Patients with muscle weakness at onset were older than those with myalgia and myotonia (p < 0.0001), while each additional disease year was associated with 10% decrease in the odds of developing myotonia [OR 0.9 (95% CI 0.87-0.93)] and 6% decrease of myalgia [OR 0.94 (95% CI 0.91-0.97)]. Cataract and thyroid diseases occurred more frequently in women (p = 0.002 and p = 0.002, respectively). Ea...Continue Reading

Associated Clinical Trials

Jul 27, 2018·Prof. Dr. Benedikt Schoser

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Citations

Jul 27, 2018·Current Opinion in Neurology·Emanuele RastelliBenedikt Schoser
Oct 21, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Samantha LoRussoW David Arnold
Oct 5, 2019·Neurology. Clinical Practice·Benedikt SchoserUNKNOWN Myotonic Dystrophy Foundation
Aug 25, 2018·Frontiers in Neurology·Peter MeinkeBenedikt Schoser
Jul 6, 2018·Frontiers in Neurology·Alexis S MahyeraWolfram Kress
Sep 25, 2018·Journal of Neuromuscular Diseases·Ivo BozovicVidosava Rakocevic-Stojanovic
May 7, 2020·Frontiers in Neurology·Federica MontagneseBenedikt Schoser
Jun 19, 2018·Frontiers in Physiology·Flavia F BloiseTania M Ortiga-Carvalho
May 18, 2018·Frontiers in Neurology·Stephan WenningerBenedikt Schoser
Feb 11, 2019·Current Neurology and Neuroscience Reports·Andrea RomigiAlessandro Sanduzzi
Dec 12, 2018·Acta neurologica Belgica·Stojan PericVidosava Rakocevic Stojanovic
Feb 18, 2021·Journal of Clinical Neuromuscular Disease·Bhaskar RoyKevin J Felice
Jun 27, 2021·BMC Neurology·Fabian HofmeisterMichael Drey
May 15, 2021·Current Opinion in Neurology·Federica Montagnese, Benedikt Schoser

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