Results 11 to 20 of about 15,859 (215)
Multidimensional Measurements of Dysarthria in Myotonic Dystrophy Type 1. [PDF]
Int J Lang Commun DisordABSTRACT Background Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. Dysarthria is a known symptom of DM1, but literature is lacking about the patient's own perception in relationship to dysarthria characteristics and severity.
Hellemond SV +6 more
europepmc +2 more sources
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 +1 more source
DNA methylation and trinucleotide repeat expansion diseases [PDF]
, 2012 Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core +2 more sources
Fundus flavimaculatus-like in myotonic dystrophy: a case report
BMC Ophthalmology, 2021 Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca +5 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
A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism [PDF]
Journal of Movement Disorders, 2018 The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1.
Ji-Hyun Choi +3 more
doaj +1 more source
Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after ...
Cheng-Wei Wang +2 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
core +1 more source
Muscle biopsy correlated with electromyography: study of 100 cases
Arquivos de Neuro-Psiquiatria, 1988 To find what the correlation is and verify if is possible to avoid extensive electromyographic examination, studying only one muscle, 100 patients with neuromuscular disorders (58 primary myopathies, 32 neurogenic disorders and 10 myotonic dystrophies ...
Lineu Cesar Werneck +1 more
doaj +1 more source
Myotonia Congenita: Case Report of Becker's Variant
Boğaziçi Tıp Dergisi, 2022 Myotonia is a finding caused by muscle hyperexcitability and occurs as a result of delayed relaxation. The two disease groups in which myotonia is seen are myotonic dystrophy from muscular dystrophies and non-dystrophic myotonias from muscle ion channel ...
Okan Akşahin, Mehmet Güney Şenol
doaj +1 more source