Filtered By:
Source: Neuromuscular Disorders

This page shows you your search results in order of date. This is page number 17.

Order by Relevance | Date

Total 1514 results found since Jan 2013.

Fshd / opmd / myotonic dystrophy
We report the case of a seventy-nine years old caucasian patient who presented with rapidly progressive dropping head at age 77 and subtle swallowing troubles one year after. There were no other muscular symptoms. On examination, there was no facial involvement (including ptosis or eye movements limitation), neck extensors were weak (3/5 MRC), there was no segmental weakness, except for a discrete deficit of the finger's extensors (4+/5 MRC).
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: M. Masingue, M. Bisciglia, A. Chanut, C. Labasse, C. Metay, T. Evangelista Source Type: research

Congenital muscular dystrophies
In this study, we stratified the phenotypes of 121 patients with COL6-RD from Spain (n  = 56) and the US (n = 65) into three categories according to the maximal motor ability achieved: (1) achieved rising from floor only with assistance = Ullrich congenital muscular dystrophy; (2) achieved rising from floor unassisted = intermediate COL6-RD, and (3) achieved stair clim bing (ascending a minimum of four stairs without use of the railing) = Bethlem myopathy.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: D. Natera-de Benito, A. Reghan-Foley, C. Dom ínguez-González, C. Ortez, M. Jain, A. Mebrahtu, S. Donkervoort, Y. Hu, M. Fink, P. Yun, T. Ogata, J. Medina, J. Díaz-Manera, L. Carrera-García, J. Expósito-Escudero, M. Olivé, J. Colomer, C. Jiménez-Mal Source Type: research

Congenital muscular dystrophies
We report the clinical and molecular findings in 14 patients from 12 families carrying the COL6A3 missense variant c.7447A>G combined with a nonsense, deletion or frameshift COL6A3 mutation and one c.7447A>G homozygous patient.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: R. Villar Quiles, S. Donkevoort, A. de Becdelievre, V. Allamand, V. Jobic, J. Urtizberea, G. Sole, A. Furby, M. Cerino, E. Campana-Salort, A. Magot, A. Ferreiro, B. Eymard, C. B önnemann, P. Richard, C. Metay, T. Stojkovic Source Type: research

Congenital muscular dystrophies
We describe the phenotype, genotype and muscle MRI (WBMRI) in a series of patients with Collagen VI-Related Myopathy (COLVI-RM). A retrospective study of patients with a genetic diagnosis of Collagen-VI-RM, IRB-approved. Demographic data and patients ’ characteristics were obtained from medical records.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: B. Suarez, J. Jofre, M. Martinez-Jalilie, M. Diemer, X. Ortega, T. Vial, S. Lillo, M. Haro, G. Calcagno, M. Palomino, C. Hervias, C. Castiglioni Source Type: research

From the spinal cord to the muscle
Limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MM) are progressive, inherited muscular dystrophies caused DYSF gene mutations. LGMDR2 describes a predominantly proximal phenotype while an MM phenotype involves more distal weakness. It is not clear, for the purposes of clinical trials and drug licencing, if patients with each diagnosis should be separated or can be managed as one disease. The aim of this investigation was to determine if MM and LGMDR2 are distinct clinical entities that require separation for clinical trials.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: U. Moore, H. Gordish, J. D íaz Maneraz, M. James, A. Mayhew, M. Guglieri, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Yoshimura, E. Bravver, E. Pegoraro, J. Mendell, V. Straub Source Type: research

Registries, care, quality of life, management of nmd
Improvements in medical care for patients with genetic muscle diseases have made their lifespan longer. It should be important to provide multidisciplinary child-to-adult transition for better life of them. We reviewed medical records of patients with genetic muscle diseases who visited our clinic for transition between November 2012 and October 2016, and analyzed current status and issues of child-to-adult healthcare transition. We accepted 31 patients with muscular dystrophy and 4 with congenital myopathy for transition in 4 years; mean age was 19.3 ±4.6 years (range 11-32).
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: K. Ogata, T. Murakami, K. Yatabe, M. Suzuki, I. Nonaka, T. Tamura Source Type: research

New genes and diseases / ngs & related techniques
We report 16 patients from a cohort of 585 genotyped congenital myopathy patients whose whole exome sequencing (WES) results along with RNA sequencing (RNA-seq) revealed mutations in uncommon myopathy genes.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: A. Aykanat, C. Genetti, W. Win, Z. Valivullah, E. O'Heir, B. Darras, R. Laine, A. O'Donnell-Luria, A. Beggs Source Type: research

Mitochondrial diseases & metabolic myopathies
We report here four additional patients (P1-P4), from three kindreds, including two sisters (P1, P2) with homozygous or compound heterozygous mid-domain variants in RBCK1.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: R. Phadke, C. Hedberg-Oldfors, R. Scalco, D. Lowe, M. Ashworth, M. Novelli, R. Vara, A. Merwick, H. Amer, R. Sofat, M. Sugarman, A. Jovanovic, M. Roberts, V. Nakou, A. King, I. Bodi, H. Jungbluth, A. Oldfors, E. Murphy Source Type: research

Mitochondrial diseases & metabolic myopathies
TK2d is an ultra-rare genetic mitochondrial disease caused by a critical enzyme deficiency in the mitochondrial DNA (mtDNA) replication pathway leading to mtDNA copy number depletion. TK2d presents as severe progressive myopathy across all ages and leads to significant morbidity (loss of ambulation, need for ventilatory support) and mortality. MT1621 is a fixed dose combination of deoxycytidine (dC) and thymidine (dT) being developed as a substrate enhancement therapy for TK2d. A mechanism of action study was conducted to assess the incorporation of isotopically labeled heavy dC and dT into mtDNA of the knock-out TK2-/- mouse model.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: L. Tsuruda, D. Kenny, C. Bl ázquez-Bermejo, A. Karlsson, R. Martí, Y. Cámara Source Type: research

Autoimmune myopathies
Dermatomyositis (DM) can be associated with the anti-melanoma differentiation-associated gene 5 (MDA5, IFIH1) autoantibody. Of note, patients present with severe extramuscular (notably lung and skin) manifestations and myopathy can be mild or missing, hence termed ``amyopathic'' DM previously. Interstitial lung disease is the leading cause of death in MDA5-DM, and death occurs frequently within one year after diagnosis in roughly 30% of these DM patients. We hereby report the autoptic findings of two male patients (30 and 42 years old) who succumbed to severe ILD in MDA5-related DM.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: B. Englert, W. Stenzel Source Type: research

Autoimmune myopathies
Scleroderma/systemic sclerosis (Scl/SSc) is a heterogeneous disease which can involve internal organ and cause death. When myopathy occurred in Scl/SSc, it is associated with poor prognosis and with more frequent cardiopulmonary involvement. Because the myositis disease concept is changing and the diagnosis of polymyositis may not exist, it may affect Scl/SSc with ``myositis overlap''. In the current study, we try to elucidate the features of myopathy in Scl/SSc patients mainly from a histopathological point of view.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: Y. Chen, M. Inoue, M. Ogasawara, Y. Saito, L. Indrawati, J. Tanboon, T. Kumutpongpanich, M. Okubo, W. Yohioka, S. Hayashi, S. Noguchi, I. Nishino Source Type: research

Autoimmune myopathies
There has been no report of immune –mediated necrotizing myopathy (IMNM) from Arab or African countries, including Egypt. To characterize IMNM cases identified in Egypt, clinical records of 18 IMNM cases diagnosed at Myo–Care Center, Cairo, Egypt (2–61 years, 12 females) were reviewed; neuromuscular assessment, CK level, EMG, M RI, muscle pathology, autoantibody testing and clinical course. No case had family history. All except 2 were previously diagnosed as muscular dystrophy at other medical institutes.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: R. El Sherif, M. Gamal, I. Nishino Source Type: research

Autoimmune myopathies
Inflammatory myopathies consist of heterogenous group of immune-mediated muscle diseases including dermatomyositis, polymyositis and so on. Patients with inflammatory myopathies occasionally have malignancies such as breast, lung, colorectal cancer and nasopharyngeal carcinoma. There have been a few reports of patients with inflammatory myopathy and lymphoma. Herein, we report an unusual case of a 67-year-old male with inflammatory myopathy and diffuse large B cell lymphoma who initially presented with slowly progressive quadriparesis, axial weakness and abnormality in the electromyography and muscle magnetic resonance image (MRI).
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: I. Yoo, J. Shin Source Type: research

Autoimmune myopathies
Inclusion body myositis (IBM) is the most common acquired myopathy after the age of 45. The slowly progressive and heterogeneous disorder is a challenge for measuring clinical trial efficacy. One current method for measuring progression utilizes the IBM Functional Rating Scale (FRS). We have found that the hand domain scores in the IBM-FRS do not consistently change until there is extreme loss of grip and finger flexor strength. Therefore, we performed a cross-sectional observational study of 83 IBM and 38 control patients recruited at the 2019 Annual Patient Conference of The Myositis Association.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: A. Lin, C. Siener, A. Faino, M. Seiffert, C. Weihl, L. Wang Source Type: research

Autoimmune myopathies
Brachio-cervical inflammatory myopathy (BCIM) is characterized by weakness of proximal muscles of the upper limbs and cervical flexor and/or extensor muscles. The pathogenic mechanism behind BCIM is unknown, but findings on muscle biopsies, consistent with a necrotizing myopathy associated to fibrosis, macrophage and B cell infiltrates and complement deposition, suggest that specific pathways – different to those of the other inflammatory myopathies – are likely involved. To describe the clinical, serological and histological features of a cohort of patients with brachio-cervical inflammatory myopathy (BCIM) associated...
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: X. Su árez-Calvet, J. Alonso-Pérez, A. Carrasco-Rozas, E. Fernández-Simón, P. Piñol-Jurado, I. Castellvi, C. Zamora, L. Martínez-Martínez, A. Alonso-Jiménez, D. Castillo, E. Gallardo, I. Illa, J. Díaz-Manera Source Type: research