Results 21 to 30 of about 31,854 (258)
PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
Revista Paulista de Pediatria, 2020 Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with ...
Patrícia Sofia Ferreira Miranda +5 more
doaj +2 more sources
Total intravenous anesthesia in a 10-month-old patient with congenital myotonic dystrophy undergoing endoscopic third ventriculostomy -A case report- [PDF]
Korean Journal of Anesthesiology, 2012 Myotonic dystrophy is a rare genetic disorder characterized by muscle atrophy and weakness. Surgical treatment of this condition poses various problems for the anesthesiologist.
Jung Hwa Joh +5 more
doaj +1 more source
JA Clinical Reports, 2020 Background Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause ...
Noriaki Nishihara +3 more
doaj +1 more source
Frontiers in Neurology, 2021 Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is primarily characterized by muscle weakness and myotonia, yet some of the most disabling symptoms of the disease are cognitive and behavioral.
Jacob N. Miller +10 more
doaj +1 more source
Cutaneous findings in myotonic dystrophyCapsule Summary
JAAD International, 2022 Myotonic dystrophy types 1 and 2 are a group of complex genetic disorders resulting from the expansion of (CTG)n nucleotide repeats in the DMPK gene. In addition to the hallmark manifestations of myotonia and skeletal muscle atrophy, myotonic dystrophy ...
Ha Eun Kong, MD, PhD +1 more
doaj
Case Reports in Gastroenterology, 2010 Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance.
Rishi R. Bhardwaj, Andrea Duchini
doaj +1 more source
Anesthesia for a Patient with Myotonic Dystrophy
Haseki Tıp Bülteni, 2016 Myotonic dystrophy is the most common myotonic syndrome causing abnormalities of the skeletal and smooth muscles as well as problems related to the cardiac, gastrointestinal and endocrine systems. In affected people, reduced functional residual capacity,
Dilek Kalaycı +6 more
doaj +1 more source
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
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
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2007 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B. +3 more
core +1 more source