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
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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
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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
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Steinert's syndrome presenting as anal incontinence: a case report
Journal of Medical Case Reports, 2011 Introduction Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy ...
Uzum Ayse +3 more
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Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]
, 2016 Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F +9 more
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The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]
, 2017 Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio +18 more
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High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2 [PDF]
, 2018 Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by abnormally expanded stretches of CTG DNA triplets in the DMPK gene, leading to mutated-transcript RNA-toxicity.
Cappella, Marisa +11 more
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Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
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Neurocognitive Disorder in Myotonic Dystrophy Type 1
Heliyon, 2023 Cognitive deficits and abnormal cognitive aging have been associated with Myotonic dystrophy type 1 (DM1), but the knowledge of the extent and progression of decline is limited. The aim of this study was to examine the prevalence of signs of neurocognitive disorder (mild cognitive impairment and dementia) in adult patients with DM1.
Stefan Winblad +3 more
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The C9ORF72 mutation brings more answers and more questions. [PDF]
, 2013 The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer's Research & Therapy.
Miller, Bruce L
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