Results 31 to 40 of about 37,969 (302)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
SAGE Open Medical Case ReportsBecker muscular dystrophy is caused by DMD mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in ...
Yoshinori Nambu +6 more
doaj +1 more source
Bimelic Hirayama Disease: Clinical Dilemma Solved by Imaging
Case Reports in Medicine, 2013 Hirayama disease (juvenile muscular atrophy of distal upper extremity) is a cervical myelopathy predominantly affecting adolescent males. It is characterized by progressive muscular weakness and atrophy of unilateral or asymmetrically bilateral distal ...
Shalabh Jain +3 more
doaj +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial
Arquivos de Neuro-Psiquiatria, 1960 The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita ...
Sylvio Saraiva +2 more
doaj +1 more source
Anesthetic Management of a Parturient with Spinal Muscle Atrophy for Cesarean Section: A Case Report
Archives of Anesthesia and Critical Care, 2020 Spinal muscular atrophy is a rare genetic neuromuscular disease characterized by loss of anterior horn cells of spinal cord and brain stem nuclei, resulting in progressive muscle weakness.
Maryam Vosoughian +5 more
doaj +1 more source
Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira +10 more
wiley +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus
Clinical Neurophysiology Practice, 2017 Objective: This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography.
Manabu Inoue +6 more
doaj +1 more source
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source