Results 1 to 10 of about 34,474,015 (115)

PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1

Revista Paulista de Pediatria, 2020
Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with ...
Patrícia Sofia Ferreira Miranda, Ester Preciosa Maio Nunes Pereira, Joana Serra Caetano Baltazar Barreto, Margarida Maria Videira Henriques, Maria Alice Santos Cordeiro Mirante, Lina Maria Jesus Ferreira Cardoso Ramos   +5 more
doaj   +3 more sources

Pulmonary thromboembolism in a patient with myotonic dystrophy type 1

Annals of Indian Academy of Neurology, 2012
Thromboembolism is a rare complication in patients with myotonic dystrophy. While immobilization of patients with advanced disease predisposes to high risk for venous thromboembolism, hypercoagulability could account for venous thromboembolism in ...
Joong-Yang Cho, So-Young Seo, Yong-Jin Cho, Keun-Sik Hong, Hee Kyung Park, Ju Hyun Lee, Sung-Soon Lee   +6 more
doaj   +2 more sources

Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

Frontiers in Neurology, 2021
Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is primarily characterized by muscle weakness and myotonia, yet some of the most disabling symptoms of the disease are cognitive and behavioral.
Jacob N. Miller, Alison Kruger, David J. Moser, Laurie Gutmann, Ellen van der Plas, Timothy R. Koscik, Sarah A. Cumming, Darren G. Monckton, Peggy C. Nopoulos, Peggy C. Nopoulos, Peggy C. Nopoulos   +10 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

A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

JA Clinical Reports, 2020
Background Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause ...
Noriaki Nishihara, Shunsuke Tachibana, Hajime Sonoda, Michiaki Yamakage   +3 more
doaj   +1 more source

Remimazolam for a patient with myotonic dystrophy type 1 who underwent endoscopic retrograde cholangiopancreatography under general anesthesia: a case report

JA Clinical Reports, 2021
Background Remimazolam is a benzodiazepine receptor agonist with an ultra-short-acting anesthetic effect. We used remimazolam for anesthesia in a patient with myotonic dystrophy type 1 who underwent endoscopic retrograde cholangiopancreatography (ERCP ...
Masakazu Fukuda, Shunsuke Tachibana, Noriaki Nishihara, Michiaki Yamakage   +3 more
doaj   +1 more source

Myotonic dystrophy: genetics and clinical polymorphism

Анналы клинической и экспериментальной неврологии, 2019
Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova, Anna N. Moskalenko, Ekaterina Yu. Fedotova, Sergey A. Kurbatov, Sergey N. Illarioshkin   +4 more
doaj   +1 more source

Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature

Journal of Medical Case Reports, 2019
Background Myotonic dystrophy type 1 is an autosomal dominant disorder characterized by muscle weakness, myotonia, cataracts, and cardiac conduction defects; it is associated with expansions of cytosine-thymine-guanine repeats in the myotonic dystrophy ...
Sarah C. Sasson, Alastair Corbett, Andrew J. McLachlan, R. Chen, S. A. Adelstein, Sean Riminton, Sandhya Limaye   +6 more
doaj   +1 more source

Obstructive Sleep Apnea Treatment with Oral Appliance in a Myotonic Dystrophy Type I Subject: A Case Report

Sleep Science, 2023
Objective to report a myotonic dystrophy type 1 (MD1) subject with obstructive sleep apnea syndrome treated with oral appliance.
Maria de Lourdes Rabelo Guimarães, Milena Carvalho Tourino Ribeiro, Thiago Antunes da Silva Barbosa, Laila Gabriela de Figueiredo Costa, Patricia Souza Bastos   +4 more
doaj   +1 more source