Results 21 to 30 of about 26,572 (220)

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   +2 more sources

Total intravenous anesthesia in a 10-month-old patient with congenital myotonic dystrophy undergoing endoscopic third ventriculostomy -A case report- [PDF]

Korean Journal of Anesthesiology, 2012
Myotonic dystrophy is a rare genetic disorder characterized by muscle atrophy and weakness. Surgical treatment of this condition poses various problems for the anesthesiologist.
Jung Hwa Joh, Ji Yeon Kim, Seung-Hye Baek, Jun-Gol Song, Yu Mi Lee, Joung Uk Kim   +5 more
doaj   +1 more source

Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility [PDF]

, 2006
Although cataract is a characteristic feature of myotonic dystrophy type 1 (DM1), little is known of the underlying mechanisms. We generated four lens epithelial cell lines derived from DM1 cataracts and two from age-matched, non-DM cataracts. Small-pool
Abe, Alan R. Prescott, Anvret, Behrens, Benders, Collison, Darren G. Monckton, Delamere, Diecke, Duke-Elder, Duncan, Dunne, Fleming, George Duncan, Gomes-Pereira, Gomes-Pereira, Harper, Harris, Hull, James, Jeremy D. Rhodes, Jin, John P. McAbney, Khajavi, Khan, Kimura, Klesert, Lauf, Monckton, O'Cochlain, Pham, Remillard, Renaud, Rhodes, Sanderson, Sarkar, Stocker, Sun, Tapscott, Vergara, Winchester   +40 more
core   +2 more sources

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2007
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B., Sackley, Catherine, Turner-Stokes, Lynne, Wade, Derick T.   +3 more
core   +1 more source

Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients [PDF]

Investigative Opthalmology & Visual Science, 2017
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De Bernardo, Maddalena, Rosa, Nicola
openaire   +3 more sources

Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis

Case Reports in Gastroenterology, 2010
Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance.
Rishi R. Bhardwaj, Andrea Duchini
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

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

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]

, 2013
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello, A Lujan Feliu-Pascual, A Razzaq, A Tjondrokoesoemo, A Toussaint, AC Durieux, AH Beggs, AJ Muller, Anne Toussaint, AS Nicot, AY Mejaddam, B Qualmann, B Sinha, Belinda Cowling, BJ Peter, BS Cowling, C Fugier, C Kojima, C Spiegelhalter, CJ McMillan, CR Pierson, D Bansal, D Grabs, D Sakamuro, DJ Owen, E Lee, G Di Paolo, G Ren, G. Diane Shelton, Gregory A. Cox, H Jungbluth, Ivana Prokic, J Bohm, J Laporte, J Weis, JJ Dowling, Joachim Weis, Jocelyn Laporte, Johann Böhm, KC Chang, KG Claeys, L Klinge, Laurent Tiret, M Bitoun, M Maurer, M Pele, Marie Maurer, MH Butler, Nasim Vasli, NB Romero, NC Mao, R Wechsler-Reya, RJ Wechsler-Reya, S Pant, SE Davies, T Itoh, Thomas James Anderson, Ulrike Schara, Wolfram Kress   +58 more
core   +7 more sources

Myotonic Dystrophy [PDF]

Neurologic Clinics, 2012
Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene.
openaire   +2 more sources