Results 61 to 70 of about 7,273 (190)

Myopathy of distal lower limbs: the clinical variant of Miyoshi

Arquivos de Neuro-Psiquiatria, 2003
Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles.
Soares Cristiane N., Freitas Marcos R.G. de, Nascimento Osvaldo J.M., Silva Lenilda Ferreira da, Freitas Andréa R. de, Werneck Lineu C.   +5 more
doaj  

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

BMC Neurology, 2019
Background Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable
Mengxin Bao, Fei Mao, Zhangning Zhao, Gaoting Ma, Guangjun Xu, Wenjuan Xu, Huan Chen, Meijia Zhu   +7 more
doaj   +1 more source

Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report

BMJ Neurology Open
Background Variants in the vaccinia-related kinase 1 (VRK1) gene have been linked to a spectrum of lower motor neuron disorders, typically characterised by distal muscle weakness and atrophy.
Roger Pamphlett, Matthew Silsby, Siobhan Kean, Himath Siriniwasa, Macken James Laurence Stirling   +4 more
doaj   +1 more source

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

Muscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke, Stephanie Johnson, Kayla Chomko, Angela Escalante, Kendall C. Hall, Melis Lydston, Courtney Uek, Gabriella Casagrande, Hyun Jung Kim, James Arnold, David Pont‐Esteban, Harrison Young, Conor Walsh, Sabrina Paganoni   +13 more
wiley   +1 more source

Diagnostic Performance of the Strength‐Duration Test for Bedside Screening of Critical Illness Polyneuropathy and/or Myopathy: A Prospective, Cross‐Sectional Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Critical illness polyneuropathy and/or myopathy (CIP/CIM) is a major cause of weakness in the intensive care unit (ICU). The availability of conventional electrodiagnostic testing may be limited. Alternative electrophysiologic methods, including the strength‐duration test (SDT) and the stimulus electrodiagnosis test (SET ...
José Roberto de Deus Macedo, Emerson Fachin‐Martins, Marilia Mendes Rodrigues, Marta Rodrigues de Carvalho, Rubens Nelson Morato Fernandez, Paulo Eugênio Silva   +5 more
wiley   +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

Muscle fatigue in patients with severe long COVID: A 2‐year follow‐up study

PM&R, EarlyView.
Abstract Background Fatigue is recognized as one of the most persistent and debilitating symptoms of long COVID, affecting both functionality and quality of life. However, its long‐term effects, especially beyond the first year after infection, remain poorly understood.
Isabella da Silva Almeida, Leandro Gomes de Jesus Ferreira, Marco Aurélio Vaz, Rochelle Rocha Costa, Nicolas Babault, Rita de Cássia Marqueti, João Luiz Quagliotti Durigan   +6 more
wiley   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source