Results 41 to 50 of about 33,763 (228)
Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation
Indian Journal of Ophthalmology, 2016 We report two cases of myotonic dystrophy in one family; both diagnosed from genetic analysis following ophthalmic indications, but before the manifestation of systemic symptoms. A 39-year-old female visited our clinic for routine examination.
Min Ji Kang +2 more
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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 +33 more
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Epigenetics and triplet-repeat neurological diseases [PDF]
, 2015 The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core +2 more sources
Vitamin-enriched drinks and dessert for myotoniс dystrophy patients with oropharyngeal dysfagia
Бюллетень сибирской медицины, 2008 Myotonic dystrophy is a multisystemic disease which mutation may influence your development and function of different organs and tissue: smooth and skeletal-muscular tissue; heart; organs of the eye, brain.
N. A. Shnaider +3 more
doaj +1 more source
Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
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Myotonic Dystrophy: Severity and Maternal Age
Pediatric Neurology Briefs, 1992 The severity of myotonic dystrophy in 17 affected sibling pairs from 15 families in which 2 or more affected children were born to mothers with myotonic dystrophy is reported from the Hospital for Sick Children, London and the Prince of Wales Children’s ...
J Gordon Millichap
doaj +1 more source
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment? [PDF]
, 2018 Aims The cognitive profile of Myotonic Dystrophy type 1 (DM1) has been described in recent decades. Moreover, DM1 patients show lowered social engagement and difficulties in social-cognitive functions.
Aliri Lazcano, Jone +5 more
core +2 more sources
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 +3 more
doaj +1 more source
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 +6 more
doaj +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 +2 more
doaj +1 more source