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
core +1 more source
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
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 +33 more
core +1 more source
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
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
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
Changes in pain-related beliefs, coping, and catastrophizing predict changes in pain intensity, pain interference, and psychological functioning in individuals with myotonic muscular dystrophy and facioscapulohumeral dystrophy [PDF]
, 2011 The primary aim of this study was to test hypothesized associations between changes in psychological variables (i.e., pain beliefs, catastrophizing and coping strategies) and changes in pain intensity and related adjustment (i.e., pain interference and ...
Jensen, Mark P. +3 more
core +1 more source
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
A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari +3 more
wiley +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