Results 21 to 30 of about 12,338 (187)
Limited orthodontic treatment in myotonic dystrophy II [PDF]
Romanian Journal of Neurology, 2017 Rationale. Myotonic dystrophy (MD) is a multisystemic autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy. Objective. The purpose of this study was to describe the dental, skeletal and muscular features in
Aurelia Magdalena Enache +4 more
doaj +1 more source
Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy
Case Reports in Obstetrics and Gynecology, 2019 Myotonic dystrophy is an autosomal-dominant disorder. Its congenital type is the most severe form, with respiratory failure that can be a life-threatening event after birth. There are no antenatal treatments that can improve neonatal outcomes of myotonic
Kyohei Yamaguchi +5 more
doaj +1 more source
Journal of Medical Case Reports, 2019 Background Myotonic dystrophy type 1 is an autosomal dominant disorder characterized by muscle weakness, myotonia, cataracts, and cardiac conduction defects; it is associated with expansions of cytosine-thymine-guanine repeats in the myotonic dystrophy ...
Sarah C. Sasson +6 more
doaj +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
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
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
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
Annals of Neurology, EarlyView.Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato +7 more
wiley +1 more source
MYOTONIC DYSTROPHY AND THE HEART [PDF]
Heart, 2002 Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. DM is a multisystem disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, and cardiac conduction abnormalities. Classical DM (first described by Steinert and called Steinert’s
G, Pelargonio +4 more
openaire +2 more sources
On the importance of including both sexes in animal studies – insights from home‐cage monitoring
Biological Reviews, EarlyView.ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater +12 more
wiley +1 more source