Results 1 to 10 of about 26,533 (183)

Quantitative Magnetic Resonance Imaging of the Forearm in Myotonic Dystrophy Type 1 [PDF]

Tomography
Introduction: Myotonic dystrophy type 1 is the most prevalent muscular dystrophy in adults, characterized by weakness, impaired functional abilities, and myotonia.
Sydney Eierle, Tanja Taivassalo, Hyunjun Park, Korey D. Cooke, Zahra Moslemi, Sean C. Forbes, Glenn A. Walter, Krista Vandenborne, S. H. Subramony, Donovan J. Lott   +9 more
doaj   +2 more sources

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

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   +2 more sources

Cutaneous findings in myotonic dystrophyCapsule Summary

JAAD International, 2022
Myotonic dystrophy types 1 and 2 are a group of complex genetic disorders resulting from the expansion of (CTG)n nucleotide repeats in the DMPK gene. In addition to the hallmark manifestations of myotonia and skeletal muscle atrophy, myotonic dystrophy ...
Ha Eun Kong, MD, PhD, Brian P. Pollack, MD, PhD   +1 more
doaj   +1 more source

Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019

Orphanet Journal of Rare Diseases, 2022
Background Myotonic dystrophy (DM) is a rare, inherited disorder with multi-systemic effects that impact the skeletal muscles, eyes, heart, skin and gastrointestinal, endocrine, respiratory, and central nervous systems.
Sarah J. Howe, David Ladipus, Michael Hull, Jason Yeaw, Tanya Stevenson, Jacinda B. Sampson   +5 more
doaj   +1 more source

Fundus flavimaculatus-like in myotonic dystrophy: a case report

BMC Ophthalmology, 2021
Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca, Mònica Berges-Marti, Brahim Azarfane, Esther Cilveti, Laura Distefano, Jose García-Arumí   +5 more
doaj   +1 more source

Congenital Myotonic Dystrophy in the Neonatal Period -

Listy klinicke logopedie, 2023
Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1), an autosomal dominant multisystem disorder. Myotonic dystrophies are primarily degenerative, genetically determined and progressive disorders of skeletal and smooth
Barbora Červenková
doaj   +1 more source

Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart. Genetic testing for myotonic dystrophy is diagnostic and identifies those at risk for cardiac complications.
Elizabeth M. McNally, Douglas L. Mann, Yigal Pinto, Deepak Bhakta, Gordon Tomaselli, Saman Nazarian, William J. Groh, Takuhisa Tamura, Denis Duboc, Hideki Itoh, Leah Hellerstein, Pradeep P. A. Mammen   +11 more
doaj   +1 more source

Infection-Induced Rhabdomyolysis in a Pregnant Woman with Undiagnosed Myotonic Dystrophy: A Case Report

Medicina, 2023
A 34-year-old nulliparous gravid female presented with acute bilateral pyelonephritis at 29 + 5 weeks gestation. The patient was relatively well until two weeks ago when a slight increase in amniotic fluid was noted.
Hyun Mi Kim, Heejeong Kim, Hyun-Hwa Cha, Haemin Kim, Hyo-Shin Kim, Mi Ju Kim   +5 more
doaj   +1 more source

Steinert's disease, from assumption to certainty in neurological practice [PDF]

Balneo and PRM Research Journal, 2022
Steinert’s disease, or myotonic dystrophy type 1 (MD1), is the most prevalent myopathy in adults. We report the case of a patient who was admitted to the Neurology Department for the progressive decrease in muscle strength in the lower limbs bilaterally.
Vitalie Văcăraș, Hapca Elian, Ionuț-Dănuț Isachi, Cristiana Văcăraș, Dafin Fior Mureșanu   +4 more
doaj   +1 more source

CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function.
André, Laurène M., Cumming, Sarah A., Furling, Denis, Gourdon, Geneviève, Monckton, Darren G., Mouly, Vincent, van Agtmaal, Ellen L., van den Broek, Walther J.A.A., van Kessel, Ingeborg D.G., Wansink, Derick G., Wieringa, Bé, Willemse, Marieke   +11 more
core   +17 more sources