Results 21 to 30 of about 1,270,049 (189)

Myotonia Congenita: Case Report of Becker's Variant

Boğaziçi Tıp Dergisi, 2022
Myotonia is a finding caused by muscle hyperexcitability and occurs as a result of delayed relaxation. The two disease groups in which myotonia is seen are myotonic dystrophy from muscular dystrophies and non-dystrophic myotonias from muscle ion channel ...
Okan Akşahin, Mehmet Güney Şenol
doaj   +1 more source

Steinert's syndrome presenting as anal incontinence: a case report

Journal of Medical Case Reports, 2011
Introduction Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy ...
Uzum Ayse, Toros Ahmet, Erdenen Fusun, Sacak Sirin   +3 more
doaj   +1 more source

Role of Myotonic Dystrophy Protein Kinase [DMPK] in Glucose Homeostasis and Muscle Insulin Action [PDF]

, 2007
Myotonic dystrophy 1 (DM1) is caused by a CTG expansion in the 3′-unstranslated region of the DMPK gene, which encodes a serine/threonine protein kinase. One of the common clinical features of DM1 patients is insulin resistance, which has been associated
Liesa Marc, Ciaraldi, Theodore P, Martí, Luc, Ciaraldi, Theodore P., Palacin, Manuel, Catalucci, Daniele, Wolfgang H Dillmann, Esther Llagostera, Perla Kaliman, Catalucci Daniele, Camps, Marta, Reddy, Sita, Gomis, Ramon, 1946-, Luc Marti, Llagostera Martín, Esther, Antonio Zorzano, Ciaraldi Theodore P., Dillmann, Wolfgang H, Llagostera Esther, Gomis Ramon, Reddy Sita, Camps Marta, Dillmann, Wolfgang H., Kaliman Perla, Sita Reddy, Kaliman, Perla, Ruiz-Lozano Pilar, Llagostera, Esther, Richard Kondo, Ruiz-Lozano, Pilar, Zorzano Olarte, Antonio, Manuel Palacin, Zorzano Antonio, Kondo, Richard, Palacín Prieto, Manuel, Ramon Gomis, Daniele Catalucci, Liesa Torre-Marín, Montserrat, Dillmann Wolfgang H., Marti Luc, Camps Camprubí, Marta, Zorzano, Antonio, Marta Camps, Pilar Ruiz-Lozano, Liesa, Marc, Kondo Richard, Gomis, Ramon, Marc Liesa, Theodore P Ciaraldi, Palacin Manuel   +49 more
core   +2 more sources

A trigger-happy soldier with bilateral ptosis and dysphagia

Biomedical Journal, 2015
Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
doaj   +1 more source

Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia

BMC Neurology, 2021
Background Sarcopenia is the age-related loss of muscle mass and strength. Undiagnosed late-onset neuromuscular disorders need to be considered in the differential diagnosis of sarcopenia.
Fabian Hofmeister, Lisa Baber, Uta Ferrari, Stefan Hintze, Stefanie Jarmusch, Sabine Krause, Peter Meinke, Stefan Mehaffey, Carl Neuerburg, Fabiana Tangenelli, Benedikt Schoser, Michael Drey   +11 more
doaj   +1 more source

Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

Cell Reports, 2017
Summary: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively.
Masayuki Nakamori, Kohei Hamanaka, James D. Thomas, Eric T. Wang, Yukiko K. Hayashi, Masanori P. Takahashi, Maurice S. Swanson, Ichizo Nishino, Hideki Mochizuki   +8 more
doaj   +1 more source

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome, [PDF]

Anais Brasileiros de Dermatologia, 2020
Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple ...
Ana Laura Andrade Bueno, Maria Emilia Vieira de Souza, Carla Graziadio, Ana Elisa Kiszewski   +3 more
doaj   +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

Aurintricarboxylic Acid Decreases RNA Toxicity in a C. elegans Model of Repeat Expansions

Toxins, 2021
Pathologic expansions of DNA nucleotide tandem repeats may generate toxic RNA that triggers disease phenotypes. RNA toxicity is the hallmark of multiple expansion repeat disorders, including myotonic dystrophy type 1 (DM1).
Maya Braun, Shachar Shoshani, Anna Mellul-Shtern, Yuval Tabach   +3 more
doaj   +1 more source

Myotonic dystrophies as a brain disorder [PDF]

Neurological Sciences, 2010
In their article, Romeo et al. [1] emphasize that abnormalities in blood perfusion and/or glucose metabolism are frequent in myotonic dystrophy type 1 (DM1 or Steinert’s disease). I would suggest that these abnormalities and others encompass all myotonic dystrophies. Myotonic dystrophies are autosomal dominant multisystem disorders.
openaire   +2 more sources