Results 71 to 80 of about 2,985,698 (230)

Autoimmune polyglandular disorders in myotonic dystrophy

Problems of Endocrinology, 2019
Myotonic dystrophy (MD) is the most common muscle disorder in adults. MD is a hereditary disease with an autosomal dominant mode of inheritance, almost 100% penetrance and pronounced clinical polymorphism. The mechanism for the development of the disease is that a mutation of the DMPK (dystrophia myotonica protein kinase) gene disrupts the normal ...
Ekaterina A. Troshina, Elena A. Panfilova, Taras S. Panevin   +2 more
openaire   +2 more sources

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

Disease Models & Mechanisms, 2017
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of RNA-dominant disorders.
Ludovic Arandel, Micaela Polay Espinoza, Magdalena Matloka, Audrey Bazinet, Damily De Dea Diniz, Naïra Naouar, Frédérique Rau, Arnaud Jollet, Frédérique Edom-Vovard, Kamel Mamchaoui, Mark Tarnopolsky, Jack Puymirat, Christophe Battail, Anne Boland, Jean-Francois Deleuze, Vincent Mouly, Arnaud F. Klein, Denis Furling   +17 more
doaj   +1 more source

Mitochondrial Dysfunction in Repeat Expansion Diseases

Antioxidants, 2023
Repeat expansion diseases are a group of neuromuscular and neurodegenerative disorders characterized by expansions of several successive repeated DNA sequences. Currently, more than 50 repeat expansion diseases have been described.
Alberto Giménez-Bejarano, Eva Alegre-Cortés, Sokhna M. S. Yakhine-Diop, Patricia Gómez-Suaga, José M. Fuentes   +4 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

Which Patients With Dysfunctional Voiding Respond Well to Sacral Neuromodulation? ICI‐RS 2025

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims Dysfunctional voiding (DV) is characterised by fluctuating or intermittent urinary flow during voiding in neurologically normal individuals. Given the different definitions used and heterogeneous pathophysiologies, outcomes following sacral neuromodulation/sacral nerve stimulation (SNM/SNS) are variably reported.
Jalesh N. Panicker, Chris Harding, Hashim Hashim, Claire Hentzen, Nikita Bhatt, Arjun Nambiar, Brigitte Schurch, Mathijs de Rijk, Stefania Musco   +8 more
wiley   +1 more source

Physiology of respiratory disturbances in muscular dystrophies [PDF]

, 2016
Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea, Lo Mauro, Maria Antonella   +1 more
core   +2 more sources

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis

Case Reports in Neurological Medicine, 2015
Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies.
Marcus Magnussen, Ioannis Karakis, Taylor B. Harrison   +2 more
doaj   +1 more source

Regression of lumbar disk herniation

Неврология, нейропсихиатрия, психосоматика, 2015
Compression of the spinal nerve root, giving rise to pain and sensory and motor disorders in the area of its innervation is the most vivid manifestation of herniated intervertebral disk.
G. Yu Evzikov, A. I. Isaikin, A. V. Kavelina, E. V. Shashkova, N. N. Alipbekov   +4 more
doaj   +1 more source