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Journal articles on the topic 'Neuromuscular diseases Diagnosis'

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Author: Grafiati
Published: 10 December 2022
Last updated: 29 January 2023

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1

Younger, David S., and Paul H. Gordon. "DIAGNOSIS IN NEUROMUSCULAR DISEASES." Neurologic Clinics 14, no. 1 (February 1996): 135–68. http://dx.doi.org/10.1016/s0733-8619(05)70247-4.

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2

Mary, P., L. Servais, and R. Vialle. "Neuromuscular diseases: Diagnosis and management." Orthopaedics & Traumatology: Surgery & Research 104, no. 1 (February 2018): S89—S95. http://dx.doi.org/10.1016/j.otsr.2017.04.019.

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3

Musteață, Mihai. "Diagnosis and management of neuromuscular diseases." Practica Veterinara.ro 4, no. 33 (2018): 25. http://dx.doi.org/10.26416/pv.33.4.2018.2104.

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4

Maruyama, Rika, and Toshifumi Yokota. "Molecular Diagnosis and Novel Therapies for Neuromuscular Diseases." Journal of Personalized Medicine 10, no. 3 (September 16, 2020): 129. http://dx.doi.org/10.3390/jpm10030129.

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With the development of novel targeted therapies, including exon skipping/inclusion and gene replacement therapy, the field of neuromuscular diseases has drastically changed in the last several years. Until 2016, there had been no FDA-approved drugs to treat Duchenne muscular dystrophy (DMD), the most common muscular dystrophy. However, several new personalized therapies, including antisense oligonucleotides eteplirsen for DMD exon 51 skipping and golodirsen and viltolarsen for DMD exon 53 skipping, have been approved in the last 4 years. We are witnessing the start of a therapeutic revolution in neuromuscular diseases. However, the studies also made clear that these therapies are still far from a cure. Personalized genetic medicine for neuromuscular diseases faces several key challenges, including the difficulty of obtaining appropriate cell and animal models and limited its applicability. This Special Issue “Molecular Diagnosis and Novel Therapies for Neuromuscular/Musculoskeletal Diseases” highlights key areas of research progress that improve our understanding and the therapeutic outcomes of neuromuscular diseases in the personalized medicine era.
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5

Angelini, Corrado. "Neuromuscular diseases: advances in therapy and diagnosis." Lancet Neurology 11, no. 1 (January 2012): 15–17. http://dx.doi.org/10.1016/s1474-4422(11)70271-x.

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6

Camilleri, Michael. "Diagnosis and treatment of enteric neuromuscular diseases." Clinical Autonomic Research 13, no. 1 (February 1, 2003): 10–15. http://dx.doi.org/10.1007/s10286-003-0073-y.

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7

Lobzin, V. S. "Paroxismal states in neuromuscular diseases." Neurology Bulletin XXV, no. 1-2 (September 20, 1993): 77–80. http://dx.doi.org/10.17816/nb105961.

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The diagnosis, clinical picture, problems of patogenesis and emergency medical service in myasthenia and Lambert-Itons syndrome are considered, for the most part in crises with disorders in respiration and cardiac activity, crisis states in Tomsens myotonia and dystrophyc myotonia as well as in the large group of so-called dispotassemic paralyses, thyrotoxic myopathy and some other rarer forms of neuromuscular diseases.
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8

Rivas, E., A. Sáez, A. Montero-Sánchez, C. Paradas, B. Acha, A. Pascual, C. Serrano, and L. Escudero. "Quantifiable diagnosis of neuromuscular diseases through network analysis." Neuromuscular Disorders 25 (October 2015): S243. http://dx.doi.org/10.1016/j.nmd.2015.06.211.

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9

Hodgkinson, V., J. Lounsberry, S. M’Dahoma, A. Russell, G. Jewett, T. Benstead, B. Brais, et al. "The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry." Journal of Neuromuscular Diseases 8, no. 1 (January 1, 2021): 53–61. http://dx.doi.org/10.3233/jnd-200538.

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We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease. Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). Since 2010, the CNDR has registered 4306 patients (1154 pediatric and 3148 adult) with 91 different neuromuscular diagnoses and has facilitated 125 projects (73 academic, 3 not-for-profit, 3 government, and 46 commercial) using registry data. In conclusion, the CNDR is an effective and productive pan-neuromuscular registry that has successfully facilitated a substantial number of studies over the past 10 years.
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10

Fernandes, Isabella Araujo Mota, Renata Oliveira Almeida Menezes, and Guilhermina Rego. "EMPATIA: A Guide for Communicating the Diagnosis of Neuromuscular Diseases." International Journal of Environmental Research and Public Health 19, no. 16 (August 9, 2022): 9792. http://dx.doi.org/10.3390/ijerph19169792.

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Introduction: Neuromuscular diseases comprise a heterogeneous group of genetic syndromes that lead to progressive muscle weakness, resulting in functional limitation. There is a gap in the literature regarding the communication of the diagnosis of such diseases, compromising the autonomy of patients and families, besides causing stress on the assistant physician. Objectives: Developing a guide to reduce communication barriers in the diagnosis of neuromuscular diseases. Methodology: Systematic review, after searching the descriptors (“Muscular Diseases” OR “Neuromuscular Diseases”) AND (“Truth Disclosure” OR “Bad news communication” OR “Breaking bad News”) in the Pubmed, Bireme, and Scopus websites, and these results were analyzed through narrative textual synthesis. Results: 16 articles were submitted to the final analysis, giving rise to seven steps to support the communication process. These are Empathy, Message, Prognosis, Reception, Time, Individualization, and Autonomy. Discussion and conclusion: The empathic transmission of the message and the prognosis must accommodate the feelings of the interlocutors with different information needs. In this way, communication planning optimizes the time and individualizes each context, respecting the autonomy of those involved. EMPATIA reflects the bioethical and interdisciplinary analysis of the literature and comes to fill the gap related to the communication of bad news in neuromuscular diseases.
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11

Barbosa-Gouveia, Sofia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, Álvaro Hermida-Ameijeiras, Paula Sánchez-Pintos, Maria José de Castro, Soraya Ramiro León, et al. "Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies." Journal of Clinical Medicine 11, no. 10 (May 12, 2022): 2750. http://dx.doi.org/10.3390/jcm11102750.

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Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). The global mean diagnostic rate was 36% (97/268 patients), with a diagnostic turnaround time of 4–6 weeks. Most diagnoses corresponded to muscular dystrophies/myopathies (68.37%) and peripheral nerve diseases (22.45%). The most common causative genes, TTN, RYR1, and ANO5, accounted for almost 30% of the diagnosed cases. Finally, we evaluated the utility of the differential diagnosis tool Phenomizer, which established a correlation between the phenotype and molecular findings in 21% of the diagnosed patients. In summary, comprehensive gene-panel analysis of all genes implicated in neuromuscular diseases facilitates a rapid diagnosis and provides a high diagnostic yield.
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12

Pichiecchio, A., C. Cini, M. G. Egitto, A. Berardinelli, E. Mercuri, and C. Uggetti. "La Risonanza Magnetica muscolare nelle malattie neuromuscolari." Rivista di Neuroradiologia 16, no. 3 (June 2003): 503–10. http://dx.doi.org/10.1177/197140090301600333.

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We describe the main magnetic resonance features of neuromuscular diseases based on a series of 345 patients undergoing muscle MR scans. The study aimed to establish the use of this method in the diagnosis of neuromuscular disease, namely its ability to distinguish neurogenic forms from primary myopathy by analysing the location, extension and distribution of structural changes. A selective muscle involvement was encountered in some myogenic diseases and can be considered a characteristic feature of different diseases and hence an important aid in diagnosis. We propose that MR scanning be included among the instrumental tests required in the diagnosis of neuromuscular disease.
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13

Saikova, L. A., V. D. Kosachev, V. G. Pustozerov, Т. M. Alekseeva, Т. N. Vasilyeva, and I. G. Zavolokov. "Differential diagnosis of hypokinetic disorders in hereditary neuromuscular diseases." Neurology Bulletin XXIX, no. 1-2 (March 15, 1997): 81–83. http://dx.doi.org/10.17816/nb79927.

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For determination criteria of differential diagnosis analysis of clinical manifestations and indices of additional research methods (EMG, ENMY, biochemical, histomorphological) of paroxysmal hypokinetic conditions in myoplegia, myopathic syndromes, glycogenosis and Mc Ardl syndrome in polymyositis, Eulenburg-Lewandowsky paramyotoxia, remittent form of neural amyotrophy, some forms of congenital myopathies was carried out.
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14

Goodlass, Louise. "Neuromuscular Diseases: A Practical Approach to Diagnosis and Management." Physiotherapy 74, no. 11 (November 1988): 589. http://dx.doi.org/10.1016/s0031-9406(10)63440-2.

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15

Dyck, Peter James. "Neuromuscular Diseases: A Practical Approach to Diagnosis and Management." Mayo Clinic Proceedings 64, no. 2 (February 1989): 272–73. http://dx.doi.org/10.1016/s0025-6196(12)65698-5.

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16

Timperley, W. "Neuromuscular Diseases. A Practical Approach to Diagnosis and Management." Journal of Clinical Pathology 42, no. 3 (March 1, 1989): 333. http://dx.doi.org/10.1136/jcp.42.3.333-e.

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17

Misawa, Sonoko. "Practical Guide to the Differential Diagnosis of Neuromuscular Diseases." Spinal Surgery 32, no. 3 (2018): 280–84. http://dx.doi.org/10.2531/spinalsurg.32.280.

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18

Artug, T., O. Osman, I. Goker, B. Baslo, and B. Bolat. "P440: Determining new features for diagnosis of neuromuscular diseases." Clinical Neurophysiology 125 (June 2014): S166. http://dx.doi.org/10.1016/s1388-2457(14)50545-7.

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19

Vasli, Nasim, Johann Böhm, Stéphanie Le Gras, Jean Muller, Cécile Pizot, Bernard Jost, Andoni Echaniz-Laguna, et al. "Next generation sequencing for molecular diagnosis of neuromuscular diseases." Acta Neuropathologica 124, no. 2 (April 18, 2012): 273–83. http://dx.doi.org/10.1007/s00401-012-0982-8.

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20

Ho, Sam U. "Neuromuscular Diseases: A Practical Approach to Diagnosis and Management." JAMA: The Journal of the American Medical Association 261, no. 9 (March 3, 1989): 1345. http://dx.doi.org/10.1001/jama.1989.03420090111044.

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21

Beecroft, Sarah Jane, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G. Laing, and Gianina Ravenscroft. "Genetics of neuromuscular fetal akinesia in the genomics era." Journal of Medical Genetics 55, no. 8 (June 29, 2018): 505–14. http://dx.doi.org/10.1136/jmedgenet-2018-105266.

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Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family planning decisions. More broadly, knowledge of disease genes increasingly allows population-based preconception carrier screening, which has reduced the incidence of recessive diseases in several populations. Despite gains in knowledge of the genetics of fetal akinesia, many families lack a genetic diagnosis. In this review, we describe the developments in Mendelian genetics of neuromuscular fetal akinesia in the genomics era. We examine genetic diagnoses with neuromuscular causes, specifically including the lower motor neuron, peripheral nerve, neuromuscular junction and muscle.
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22

Cotta, Ana, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, et al. "The relative frequency of common neuromuscular diagnoses in a reference center." Arquivos de Neuro-Psiquiatria 75, no. 11 (November 2017): 789–95. http://dx.doi.org/10.1590/0004-282x20170151.

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ABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center. Methods: A 17-year chart review of patients with suspicion of myopathy. Results: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%). Conclusion: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications.
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23

Rahman, S., and M. G. Hanna. "Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases." Journal of Neurology, Neurosurgery & Psychiatry 80, no. 9 (August 14, 2009): 943–53. http://dx.doi.org/10.1136/jnnp.2008.158279.

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24

Shelton, G. D. "What’s new in muscle and peripheral nerve diseases?" Veterinary and Comparative Orthopaedics and Traumatology 20, no. 04 (2007): 249–55. http://dx.doi.org/10.1160/vcot-07-07-0074.

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SummaryIt is likely that most neuromuscular diseases that are described in humans will have a counterpart in our companion animals. With the advent of molecular genetics and the completion of the canine and feline genomes, an ever expanding number of DNA-based tests should become available for the diagnosis of muscle and peripheral nerve diseases. Molecular testing procedures should enable us to continue to unravel the molecular basis of neuromuscular diseases for which the cause is still unknown. It is important that accurate clinical evaluations and diagnostic testing, including muscle and peripheral nerve biopsies, are performed in order to reach these goals. This review focuses on recently identified inherited neuromuscular diseases in companion animals.
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25

Knowles, Charles H., and Joanne E. Martin. "New techniques in the tissue diagnosis of gastrointestinal neuromuscular diseases." World Journal of Gastroenterology 15, no. 2 (2009): 192. http://dx.doi.org/10.3748/wjg.15.192.

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26

Noto, Yu-ichi. "Nerve ultrasound is useful for the diagnosis of neuromuscular diseases." Rinsho Shinkeigaku 53, no. 11 (2013): 1215–16. http://dx.doi.org/10.5692/clinicalneurol.53.1215.

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27

Kelly, Brian J., and John M. Luce. "The Diagnosis and Management of Neuromuscular Diseases Causing Respiratory Failure." Chest 99, no. 6 (June 1991): 1485–94. http://dx.doi.org/10.1378/chest.99.6.1485.

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28

Lissoni, A., and F. Molteni. "Pathogenesis of respiratory failure in neuromuscular diseases: Diagnosis and treatment." Italian Journal of Neurological Sciences 7, no. 5 (October 1986): 499–504. http://dx.doi.org/10.1007/bf02342028.

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29

Gibertoni, M., A. Colombo, R. Schoenhuber, G. Galassi, M. Calò, G. Crisi, and C. Martinelli. "Muscle CT, biopsy and EMG in diagnosis of neuromuscular diseases." Italian Journal of Neurological Sciences 8, no. 1 (February 1987): 51–53. http://dx.doi.org/10.1007/bf02361435.

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30

Conjeti, Sailesh, and Bijay Kumar Rout. "Strategy for Electromyography Based Diagnosis of Neuromuscular Diseases for Assistive Rehabilitation." International Journal on Bioinformatics & Biosciences 3, no. 3 (September 30, 2013): 25–39. http://dx.doi.org/10.5121/ijbb.2013.3303.

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31

Pandey, Babita, and R. B. Mishra. "Data-Mining models for the Diagnosis of EMG-based Neuromuscular Diseases." International Journal of Biomedical Engineering and Technology 6, no. 2 (2011): 109. http://dx.doi.org/10.1504/ijbet.2011.041118.

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32

Rath, Carlos. "Neuroinfectious Diseases: Guillain Barre Syndrome Clinical Features Suggestive of Early Diagnosis." Neuroscience and Neurological Surgery 1, no. 3 (August 10, 2017): 01–03. http://dx.doi.org/10.31579/2578-8868/021.

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Guillain Barré syndrome is one of the best examples of a post infectious immune disease and offers insights into the mechanism of tissue damage in other more common autoimmune diseases. Controlled epidemiological studies have linked it to infection with Campylobacter jejuni in addition to other viruses including cytomegalovirus and Epstein Barr virus. The syndrome includes several pathological subtypes, of which the most common is a multifocal demyelinating disorder of the peripheral nerves in close association with macrophages. Evidence from histological examination of peripheral nerve biopsy and postmortem samples suggests that both cell mediated and humoral mechanisms are involved in the pathogenesis. Immunological studies suggest that at least one third of patients have antibodies against nerve gangliosides, which in some cases also react with constituents of the liposaccharide of C jejuni. In the Miller Fisher variant of the disease, these antiganglioside antibodies have been shown to produce neuromuscular block, and may in part explain the clinical signs of that disorder. Treatment with both intravenous immunoglobulin and plasma exchange reduces the time taken for recovery to occur, although mortality remains around 8%, with about 20% of patients remaining disabled.
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33

Kim, Seung Woo, and Ha Young Shin. "Autoantibody Testing in Neuromuscular Disorders." Korean Journal of Neuromuscular Disorders 14, no. 1 (June 30, 2022): 1–5. http://dx.doi.org/10.46518/kjnmd.2022.14.1.1.

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Autoantibodies are present in many autoimmune disorders, including diseases impacting the peripheral nerve, neuromuscular junction, and muscle. Some of these autoantibodies play a vital role in pathogenesis, whereas others are unlikely to be directly pathogenic, but may be useful biomarkers. The identification of autoantibodies is valuable in diagnosis, as well as in establishing a treatment plan in antibody-mediated neuromuscular disorders. This review briefly summarizes antibody, autoantibody, and methods of autoantibody testing for clinicians who treat patients with neuromuscular disorders.
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34

Гарифуллина, С. А., А. В. Марахонов, С. И. Куцев, and Р. А. Зинченко. "The usefulness of high throughput sequencing for the diagnosis of hereditary diseases of neuromuscular system." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 4(213) (April 30, 2020): 53–54. http://dx.doi.org/10.25557/2073-7998.2020.04.53-54.

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Наследственные заболевания нервно-мышечной системы представляют собой обширную группу генетически гетерогенных наследственных болезней, для которых характерен выраженный клинический полиморфизм. В данном сообщении показана целесообразность применения методов высокопроизводительного секвенирования (ВПС) для постановки точного диагноза редких форм наследственных неравно-мышечных заболеваний, который, в свою очередь, приводит к более благоприятному симптоматическому и патогенетическому лечению и медико-генетическому консультированию. Hereditary diseases of the neuromuscular system represent an extensive group of genetically heterogeneous hereditary diseases characterized by pronounced clinical polymorphism. This report shows the feasibility of using high-throughput sequencing (HTS) methods for making the most accurate diagnosis of rare neuromuscular disorders, which in turn leads to the most favorable symptomatic care and helps in genetic counselling.
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35

Yubero, Dèlia, Daniel Natera-de Benito, Jordi Pijuan, Judith Armstrong, Loreto Martorell, Guerau Fernàndez, Joan Maynou, et al. "The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases." International Journal of Molecular Sciences 22, no. 8 (April 20, 2021): 4274. http://dx.doi.org/10.3390/ijms22084274.

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The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical, biochemical, electrophysiological, electrophysiological, and histopathological characterization is very helpful to achieve molecular diagnosis, which is essential for establishing prognosis, treatment and genetic counselling. Currently, the genetic approach includes both the gene-targeted analysis in specific clinically recognizable diseases, as well as genomic analysis based on next-generation sequencing, analyzing either the clinical exome/genome or the whole exome or genome. However, as of today, there are still many patients in whom the causative genetic variant cannot be definitely established and variants of uncertain significance are often found. In this review, we address these drawbacks by incorporating two additional biological omics approaches into the molecular diagnostic process of NMDs. First, functional genomics by introducing experimental cell and molecular biology to analyze and validate the variant for its biological effect in an in-house translational diagnostic program, and second, incorporating a multi-omics approach including RNA-seq, metabolomics, and proteomics in the molecular diagnosis of neuromuscular disease. Both translational diagnostics programs and omics are being implemented as part of the diagnostic process in academic centers and referral hospitals and, therefore, an increase in the proportion of neuromuscular patients with a molecular diagnosis is expected. This improvement in the process and diagnostic performance of patients will allow solving aspects of their health problems in a precise way and will allow them and their families to take a step forward in their lives.
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36

Gonzalez-Quereda, L., M. Rodriguez, A. Nascimento, C. Ortez, C. Jou, J. Milisenda, J. Diaz-Manera, I. Jerico, I. Tejada, and P. Gallano. "Two different NGS approaches to address molecular diagnosis of congenital neuromuscular diseases." Neuromuscular Disorders 27 (October 2017): S197. http://dx.doi.org/10.1016/j.nmd.2017.06.375.

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37

Neri, M., C. Scotton, G. Vattemi, L. Merlini, F. Gualandi, N. Levy, and A. Ferlini. "P5.75 High throughput diagnosis of neuromuscular diseases: the NMD-CHIP EU project." Neuromuscular Disorders 21, no. 9-10 (October 2011): 746. http://dx.doi.org/10.1016/j.nmd.2011.06.1103.

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38

Krause, Karsten, Maximilian Wulf, Paula Sommer, Katalin Barkovits, Matthias Vorgerd, Katrin Marcus, and Britta Eggers. "CSF Diagnostics: A Potentially Valuable Tool in Neurodegenerative and Inflammatory Disorders Involving Motor Neurons: A Review." Diagnostics 11, no. 9 (August 24, 2021): 1522. http://dx.doi.org/10.3390/diagnostics11091522.

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Cerebrospinal fluid (CSF) diagnostics has emerged as a valid tool for a variety of neurological diseases. However, CSF diagnostics has been playing a subordinate role in the diagnosis of many neurological conditions. Thus, in the multitude of neuromuscular diseases in which motor neurons are affected, a CSF sample is rarely taken routinely. However, CSF diagnostics has the potential to specify the diagnosis and monitor the treatment of neuromuscular disorders. In this review, we therefore focused on a variety of neuromuscular diseases, among them amyotrophic lateral sclerosis (ALS), peripheral neuropathies, and spinal muscular atrophy (SMA), for which CSF diagnostics has emerged as a promising option for determining the disease itself and its progression. We focus on potentially valuable biomarkers among different disorders, such as neurofilaments, cytokines, other proteins, and lipids to determine their suitability, differentiating between different neurological disorders and their potential to determine early disease onset, disease progression, and treatment outcome. We further recommend novel approaches, e.g., the use of mass spectrometry as a promising alternative techniques to standard ELISA assays, potentially enhancing biomarker significance in clinical applications.
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39

Lupica, Antonino, Vincenzo Di Stefano, Andrea Gagliardo, Salvatore Iacono, Antonia Pignolo, Salvatore Ferlisi, Angelo Torrente, Sonia Pagano, Massimo Gangitano, and Filippo Brighina. "Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?" Brain Sciences 11, no. 3 (March 21, 2021): 398. http://dx.doi.org/10.3390/brainsci11030398.

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Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disorders to provide a practical approach to the diagnosis and the correct management of INMD. A considerable number of biomarkers have been reported that support the diagnosis of INMD, but the role of an expert clinician is crucial. Hence, the complete knowledge of such abnormalities can accelerate the diagnostic workup supporting the referral to specialists in neuromuscular disorders.
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40

Cantó-Santos, Judith, Josep M. Grau-Junyent, and Glòria Garrabou. "The Impact of Mitochondrial Deficiencies in Neuromuscular Diseases." Antioxidants 9, no. 10 (October 9, 2020): 964. http://dx.doi.org/10.3390/antiox9100964.

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Neuromuscular diseases (NMDs) are a heterogeneous group of acquired or inherited rare disorders caused by injury or dysfunction of the anterior horn cells of the spinal cord (lower motor neurons), peripheral nerves, neuromuscular junctions, or skeletal muscles leading to muscle weakness and waste. Unfortunately, most of them entail serious or even fatal consequences. The prevalence rates among NMDs range between 1 and 10 per 100,000 population, but their rarity and diversity pose difficulties for healthcare and research. Some molecular hallmarks are being explored to elucidate the mechanisms triggering disease, to set the path for further advances. In fact, in the present review we outline the metabolic alterations of NMDs, mainly focusing on the role of mitochondria. The aim of the review is to discuss the mechanisms underlying energy production, oxidative stress generation, cell signaling, autophagy, and inflammation triggered or conditioned by the mitochondria. Briefly, increased levels of inflammation have been linked to reactive oxygen species (ROS) accumulation, which is key in mitochondrial genomic instability and mitochondrial respiratory chain (MRC) dysfunction. ROS burst, impaired autophagy, and increased inflammation are observed in many NMDs. Increasing knowledge of the etiology of NMDs will help to develop better diagnosis and treatments, eventually reducing the health and economic burden of NMDs for patients and healthcare systems.
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KIM, Jeong Gee, Yasushi TAKAGI, Ryuichi UZAWA, Kunihide GOMI, and Koujiro SUGITA. "Clinical Significance of CK-MM Isoform Analysis for the Diagnosis of Neuromuscular Diseases." Showa University Journal of Medical Sciences 3, no. 2 (1991): 125–31. http://dx.doi.org/10.15369/sujms1989.3.125.

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42

Biancalana, Valérie, and Jocelyn Laporte. "Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis." Journal of Neuromuscular Diseases 2, no. 3 (September 2, 2015): 193–203. http://dx.doi.org/10.3233/jnd-150092.

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43

Thompson, Rachel, Sally Spendiff, Andreas Roos, Pierre R. Bourque, Jodi Warman Chardon, Janbernd Kirschner, Rita Horvath, and Hanns Lochmüller. "Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development." Lancet Neurology 19, no. 6 (June 2020): 522–32. http://dx.doi.org/10.1016/s1474-4422(20)30028-4.

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44

Koçer, Sabri. "Classification of Emg Signals Using Neuro-Fuzzy System and Diagnosis of Neuromuscular Diseases." Journal of Medical Systems 34, no. 3 (January 6, 2009): 321–29. http://dx.doi.org/10.1007/s10916-008-9244-7.

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45

Chen, Derrick J., and Richard A. Prayson. "Evaluation of simultaneous muscle and nerve biopsies for the diagnosis of neuromuscular diseases." Annals of Diagnostic Pathology 18, no. 5 (October 2014): 282–85. http://dx.doi.org/10.1016/j.anndiagpath.2014.08.001.

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46

Marra, Federica, Paola Lunetti, Rosita Curcio, Francesco Massimo Lasorsa, Loredana Capobianco, Vito Porcelli, Vincenza Dolce, Giuseppe Fiermonte, and Pasquale Scarcia. "An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases." Biomolecules 11, no. 11 (November 4, 2021): 1633. http://dx.doi.org/10.3390/biom11111633.

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Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause incorrect communication between the nerves and muscles. The specific causes of NMDs are not well known, but most of them are caused by genetic mutations. NMDs are generally progressive and entail muscle weakness and fatigue. Muscular impairments can differ in onset, severity, prognosis, and phenotype. A multitude of possible injury sites can make diagnosis of NMDs difficult. Mitochondria are crucial for cellular homeostasis and are involved in various metabolic pathways; for this reason, their dysfunction can lead to the development of different pathologies, including NMDs. Most NMDs due to mitochondrial dysfunction have been associated with mutations of genes involved in mitochondrial biogenesis and metabolism. This review is focused on some mitochondrial routes such as the TCA cycle, OXPHOS, and β-oxidation, recently found to be altered in NMDs. Particular attention is given to the alterations found in some genes encoding mitochondrial carriers, proteins of the inner mitochondrial membrane able to exchange metabolites between mitochondria and the cytosol. Briefly, we discuss possible strategies used to diagnose NMDs and therapies able to promote patient outcome.
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Sweeney, Michael. "Autoimmune Neurologic Diseases in Children." Seminars in Neurology 38, no. 03 (June 2018): 355–70. http://dx.doi.org/10.1055/s-0038-1660520.

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AbstractAutoimmune diseases of the nervous system in children are composed of a heterogeneous group of rare disorders that can affect the central or peripheral nervous system at any level. Presentations may occur in children of any age and are typically acute or subacute in onset. Consideration of an autoimmune process as the etiology of neurologic diseases in children is important, as it may lead to early initiation of immunotherapy and an improvement in long-term neurologic outcomes. The developing nervous and immune systems in children create unique challenges in diagnosis and treatment of these rare diseases. In this review, autoimmune diseases affecting the brain, spinal cord, nerve roots, peripheral nerves, neuromuscular junction, and muscle in children are described.
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Seok, Jung Im. "Ultrasound Imaging of the Diaphragm." Journal of the Korean Neurological Association 39, no. 4 (November 1, 2021): 270–73. http://dx.doi.org/10.17340/jkna.2021.4.2.

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The diaphragm is the major muscle of respiration and its dysfunction is associated with problems ranging from orthopnea to prolonged recovery from surgery or ventilator management. Common causes of diaphragm dysfunction include phrenic neuropathy, motor neuron disease, neuromuscular junction disorders, and myopathy. This article reviews sonographic findings of normal diaphragm, including key quantitative ultrasound measurements that are helpful in the evaluation of diaphragm. It also discusses various clinical application of this technique in diagnosis of neuromuscular diseases.
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Levine, Joshua, Sophia Mavrommatis, Sandy Vang, and Sarah Anderson. "A Case Series Evaluating Postoperative Complications of Foot and Ankle Surgeries in Adult Patients With Neuromuscular Disease." Foot & Ankle Orthopaedics 8, no. 1 (January 2023): 247301142211481. http://dx.doi.org/10.1177/24730114221148165.

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Background: Patients with neuromuscular diseases such as cerebral palsy (CP) are living longer because of advances in medicine, yielding a larger number of adult patients that could benefit from corrective surgery. However, some surgeons are hesitant to offer surgery to these patients because of concern for postoperative complications. A paucity of literature exists that describes complications in patients undergoing foot and ankle surgery for neuromuscular diseases. The primary study outcome was to identify the postoperative complication rates associated with foot and ankle surgery in adult patients with neuromuscular disease. Methods: The charts of patients with neuromuscular diseases who had foot and ankle surgery by the senior author at a single institution from March 2010 to March 2020 were reviewed. Patient charts were reviewed for demographic data, medical history and diagnoses, and surgical treatment information. Only patients’ index procedures with the senior author were evaluated for surgical data. Patient charts were assessed to determine the presence or absence of a postoperative complication following an index procedure. Results: In a cohort of 42 patients, females comprised 60% of the patient cohort. The average age was 35 (range, 20-69) years old. CP was the most common neuromuscular diagnosis at 52% (22 of 42) patients. Eighteen percent (11 of 60) of the index surgeries had 1 or more complication with a total of 13 complications. The overall wound complication rate was 10% (6 of 60), infection rate was 8% (5 of 60), and the nonunion rate following arthrodesis was 10% (2 of 21). Conclusion: We conclude that foot and ankle surgery in this complex population can be done safely, with postoperative complication rates similar to the average population. Although these patients may present with unique challenges, surgeons should not forgo surgery out of concern for postoperative complications. Level of Evidence: Level IV, retrospective cohort study at a single institution.
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Jeon, Mi Young, Jin Myoung Seok, Kazuo Fujihara, and Byoung Joon Kim. "Autoantibodies in central nervous system and neuromuscular autoimmune disorders: A narrative review." Precision and Future Medicine 6, no. 2 (June 30, 2022): 105–16. http://dx.doi.org/10.23838/pfm.2021.00198.

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The discovery of novel autoantibodies in neurological disorders contributes to a better understanding of its pathogenesis, improves the accuracy of diagnosis, and leads to new treatment strategies. Advances in techniques for the screening and detection of autoantibodies have enabled the discovery of new antibodies in the central nervous system (CNS) and neuromuscular diseases. Cell-based assays using live or fixed cells overexpressing target antigens are widely used for autoantibody-based diagnosis in clinical practice. Common pathogenic autoantibodies are unknown in most patients with multiple sclerosis (MS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Novel pathogenic autoantibodies to aquaporin-4 and myelin oligodendrocyte glycoprotein (MOG) have been identified in neuromyelitis optica spectrum disorder and MOG antibody-associated disease, respectively. These diseases have clinical similarities to MS, but with the discovery of pathogenic autoantibodies, they are now recognized as distinct disease entities. Antibodies to paranodal membrane proteins such as neurofascin-155, contactin‑1, contactin‑associated protein‑1 in CIDP and muscle-specific kinase and low-density lipoprotein receptor–related protein 4 in myasthenia gravis were added to the profiles of autoantibodies in neurological disorders. Despite the relatively low frequency of seropositivity, autoantibody detection is currently essential for the clinical diagnosis of CNS and neuromuscular autoimmune disorders, and differential approaches to seropositive patients will contribute to more personalized medicine. We reviewed recent discoveries of autoantibodies and their clinical implications in CNS and neuromuscular disorders.
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