Results 51 to 60 of about 26,826 (219)

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]

, 2015
Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu, Comai, Lucio, Dixon, Donald M, El-Ghazali, Ayea, Fishbein, Michael C, Jordan, Maria C, Park, Sun Young, Reddy, Sita, Roos, Kenneth P   +8 more
core  

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

Anesthetic management for a patient with myotonic dystrophy with remimazolam

JA Clinical Reports, 2021
Background Patients with myotonic dystrophy may have increased sensitivity to drugs used for anesthesia. We successfully managed general anesthesia in a patient with myotonic dystrophy using a novel intravenous anesthetic, remimazolam.
Yasuhiro Morimoto, Aya Yoshimatsu, Manabu Yoshimura   +2 more
doaj   +1 more source

Pressão intraocular, espessura corneal e histerese corneal em distrofia miotônica de Steinert [PDF]

, 2011
PURPOSE: Low intraocular pressure (IOP) measured by Goldmann applanation tonometry (GAT) is one of the ocular manifestations of Steinert's myotonic dystrophy.
Doi, Larissa Morimoto, Garcia Filho, Carlos Alexandre de Amorim, Melo Jr., Luiz Alberto Soares, Prata, Tiago dos Santos, Sousa, Aline Katia Siqueira   +4 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

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Orphanet Journal of Rare Diseases, 2018
Background Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity.
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller   +38 more
doaj   +1 more source

Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A)

Stem Cell Research, 2023
Congenital myotonic dystrophy (CDM) is an autosomal dominant multisystemic disorder attributed to a large expansion of CTG trinucleotide repeats within the myotonic dystrophy protein kinase (DMPK) gene.
Thiéry De Serres-Bérard, Dominic Jauvin, Jack Puymirat, Mohamed Chahine   +3 more
doaj   +1 more source

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2009
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett, Donaghy, Farmer, Forst, Forst, Geboers, Geboers, Geboers, Germain, Hove, Hyde, Jadad, Jaivin, Kooi, Kooi, Kooi, Kooi, Lindeman, Manzur, Manzur, Matjaic, McDonald, Olsen, Refshauge, Richardson, Rideau, Rozier, Sackley, Tropp, Tulder, Turner-Stokes, Vigasio, Wiesinger, Wiesseman   +33 more
core   +1 more source

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis.

PLoS ONE
Myotonic dystrophy is associated with dysphagia, which can lead to severe complications such as aspiration pneumonia and choking. However, few histopathological studies on dysphagia in myotonic dystrophy have been conducted.
Rie Asayama, Kaori Tanaka-Nishikubo, Jun Iwanami, Takahiro Fukazawa, Motoi Kanagawa, Naohito Hato   +5 more
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