Results 51 to 60 of about 7,609 (214)

A Case of Flaccid Quadriparesis

Indian Journal of Medical Specialities, 2019
Inclusion body myositis (IBM) is the most common inflammatory myopathy above the age of 50 years and three times more common in males than females. It presents as a distal more than proximal myopathy and has an indolent progressive course.
Kashish Gupta, Subhash Kumar, Narendra Bishnoi, Mayank Gupta, Sunil Kumar Mahavar, Raman Sharma   +5 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination [PDF]

, 2020
Objective: MATR3-associated distal myopathy is a rare distal myopathy predominantly affecting lower legs as well as wrist- and finger extensors. Whilst most distal myopathies are clinically and genetically well characterized, diagnosis often remains ...
Kraya, Torsten, Stoevesandt, Dietrich, Mensch, Alexander, Müller, Tobias, Koester, Felicitas, Zierz, Stephan   +5 more
core   +2 more sources

Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures

Molecular Genetics & Genomic Medicine
Background Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase‐like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families ...
Hui Wang, Ting Zhang, Yanming Xu, Wenhui Fan   +3 more
doaj   +1 more source

Miopatia por corpos esferóides: relato de caso Spheroid body myopathy: case report

Arquivos de Neuro-Psiquiatria, 2005
A miopatia por corpos esferóides é doença rara, classificada no grupo das miopatias congênitas relacionadas aos distúrbios da desmina; apresenta, em geral, origem autossômica dominante e com início dos sintomas na fase adulta.
Rosana Hermínia Scola, Alcides Trentin Jr, Rodrigo Vaez, Vinicius de Faria Gignon, Thaís Gurgel Costa, Lineu Cesar Werneck   +5 more
doaj   +1 more source

Clinical Outcome Assessments for Functional Performance in Spastic Paresis: Systematic Review, Critique, and Recommendations

Movement Disorders, EarlyView.
Abstract Background Spastic paresis, resulting from central nervous system lesions, significantly impairs functional performance. In the framework of the International Classification of Functioning, Disability, and Health, functional performance was defined as functioning at the activity level in relation to the impairment of body functions and ...
Martina Hoskovcova, Marjolaine Baude, Bo Biering‐Sørensen, Ota Gal, Mary P Galea, Jean‐Michel Gracies, Carmen Rodriguez‐Blazquez, Theodore Wein, Michelle Hyczy de Siqueira Tosin, Álvaro Sánchez‐Ferro, Tiago A Mestre, Matej Skorvanek, Robert Jech, The members of the MDS Clinical Outcome Assessments Scientific Evaluation Committee and MDS Spasticity Study Group   +13 more
wiley   +1 more source

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Acta Neuropathologica Communications, 2023
Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres.
Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti   +18 more
doaj   +1 more source

A Hybrid Rule‐Based and Large Language Model Artificial Intelligence Systems for Electrodiagnostic Reporting: Two‐Center Retrospective Evaluation

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Electrodiagnostic (EDX) studies comprise nerve conduction studies (NCS) and needle electromyography (EMG). However, EDX reporting is heterogeneous across laboratories and often requires time‐consuming documentation. We aimed to evaluate a hybrid rule‐based and constrained large language model (LLM) system that drafts EDX ...
Yesung Jung, Min Kyun Sohn, Ja Young Choi, Kang Hee Cho   +3 more
wiley   +1 more source

Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy. [PDF]

PLoS ONE, 2015
Mutations in Matrin 3 [MATR3], an RNA- and DNA-binding protein normally localized to the nucleus, have been linked to amyotrophic lateral sclerosis (ALS) and distal myopathies.
M Carolina Gallego-Iradi, Alexis M Clare, Hilda H Brown, Christopher Janus, Jada Lewis, David R Borchelt   +5 more
doaj   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source