Results 21 to 30 of about 34,474,015 (115)

Pattern Dystrophy of the Macula in a Case of Steinert Disease

Case Reports in Ophthalmology, 2013
Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.
Filipe Esteves, Rosa Dolz-Marco, Pablo Hernández-Martínez, Manuel Díaz-Llopis, Roberto Gallego-Pinazo   +4 more
doaj   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Imaging in Myotonic Dystrophy Type 1 – Case Reports

Journal of the Belgian Society of Radiology, 2016
Myotonic dystrophy type 1 (DM1) is the most common of the muscular dystrophies. It is an autosomal dominant neuromuscular disorder with multisystem involvement, including the central nervous system. Two DNA-proven cases are presented.
Jurgen Bielen, Steven Schepers, Bruno Termote, Rik Vanwyck, Geert Souverijns   +4 more
doaj   +1 more source

Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine

Medicinal Research Reviews, EarlyView.
ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli, Alessia Merra, Chiara Marraccini, Lucia Merolle, Graziella Pellegrini, Eleonora Maurizi   +5 more
wiley   +1 more source

Current Progress in CNS Imaging of Myotonic Dystrophy

Frontiers in Neurology, 2018
Neuroimaging in myotonic dystrophies provided a major contribution to the insight into brain involvement which is highly prevalent in these multisystemic disorders.
Martina Minnerop, Martina Minnerop, Carla Gliem, Cornelia Kornblum, Cornelia Kornblum   +4 more
doaj   +1 more source

Whole Body Phase Angle as a Promising Marker of Disease Severity in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims To investigate its potential role as a marker of disease severity in facioscapulohumeral dystrophy (FSHD), this study examined the association between whole‐body phase angle (PhA) and clinically assessed severity in FSHD patients.
Oscar Crisafulli, Renato Baptista, Andi Nuredini, Matteo Fortunati, Luca Grattarola, Rossella Tupler, Anna Odone, Giuseppe D'Antona   +7 more
wiley   +1 more source

Myotonic dystrophy: Emerging mechanisms for DM1 and DM2 [PDF]

, 2006
Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG repeat located in the 3′ untranslated region (UTR) of DMPK (myotonic dystrophy protein ...
Diane H. Cho, Cho, Diane H., Stephen J. Tapscott, Tapscott, Stephen J.   +3 more
core   +1 more source

Therapeutic advances in type 1 myotonic dystrophy complicated with type 2 diabetes mellitus

Frontiers in Neurology
Myotonic Dystrophy (DM) is a hereditary muscle disorder characterized by progressive muscle weakness, myotonia, and multi-system dysfunction. Based on clinical and genetic features, DM can be classified into Type 1 (Type 1 Myotonic Dystrophy, DM1) and ...
Lin Luo, Changsen Zhu, Shaona Yang, Yuan Sun, Muyang Rong, Tianrong Li   +5 more
doaj   +1 more source

Myotonic dystrophy type 1: frequency of ophthalmologic findings

Arquivos de Neuro-Psiquiatria, 2016
The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function.
Karin Suzete Ikeda, Cristina Iwabe-Marchese, Marcondes Cavalcante França Jr, Anamarli Nucci, Keila Monteiro de Carvalho   +4 more
doaj   +1 more source

Autism spectrum disorder assessment in cerebral palsy and other early‐onset motor conditions: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To map diagnostic procedures and standardized instruments reportedly used to identify autism spectrum disorder (ASD) in people with cerebral palsy or other early‐onset motor conditions (EOMC) including Rett syndrome and muscular dystrophy.
Olga Laporta‐Hoyos, Marina Fernández‐Andújar, Lee Reid, Marta Oporto‐Alonso, Júlia Ballester‐Plané, América Carrascal‐Zuluaga, María Gutiérrez‐del Hoyo, Jacqui Ferraiolo, Magnus Påhlman, Kate Himmelmann, Somer Bishop, Roser Pueyo   +11 more
wiley   +1 more source