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Neuromuscular disorders and peripheral neurology

This section encompasses all aspects of neuromuscular disorders. Topics include myasthenia gravis, myopathies, neuropathies and all other inflammatory, metabolic and genetic disorders affecting skeletal muscle, peripheral nerve or neuromuscular transmission.

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  1. Gait impairments are among the most common and impactful symptoms of Parkinson’s disease (PD). Recent technological advances aim to quantify these impairments using low-cost wearable systems for use in either ...

    Authors: Sara Alberto, Sílvia Cabral, João Proença, Filipa Pona-Ferreira, Mariana Leitão, Raquel Bouça-Machado, Linda Azevedo Kauppila, António P. Veloso, Rui M. Costa, Joaquim J. Ferreira and Ricardo Matias

    Citation: BMC Neurology 2021 21:331

    Content type: Research article

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  2. Antiretroviral therapy (ART) development has reduced the severity of neurological complications of the human immunodeficiency virus (HIV), but they remain prevalent and need prompt recognition. Acute inflammat...

    Authors: Mariana Lopes, Patrícia Marques, Bruno Silva, Gonçalo Cruz, José Eduardo Serra, Eugenia Ferreira, Helena Alves and José Saraiva da Cunha

    Citation: BMC Neurology 2021 21:321

    Content type: Case report

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  3. SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dy...

    Authors: Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink…

    Citation: BMC Neurology 2021 21:313

    Content type: Study protocol

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  4. Swallowing dysfunction is related to major cause of adverse events and an indicator of shorter survival among patients with neuromuscular disorders (NMD). It is critical to assess the swallowing function durin...

    Authors: George Umemoto, Shinsuke Fujioka, Hajime Arahata, Nobutaka Sakae, Naokazu Sasagasako, Mine Toda, Hirokazu Furuya and Yoshio Tsuboi

    Citation: BMC Neurology 2021 21:302

    Content type: Research article

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  5. Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding lipopolysaccharide-induced tumour necrosis alpha factor (LITAF).

    Authors: Monika Turčanová Koprušáková, Milan Grofik, Ema Kantorová, Petra Jungová, Ján Chandoga, Martin Kolisek, Peter Valkovič, Matej Škorvánek, Rafal Ploski, Egon Kurča and Štefan Sivák

    Citation: BMC Neurology 2021 21:293

    Content type: Case report

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  6. Myasthenia gravis (MG) can occur as a paraneoplastic phenomenon associated with thymoma. The association of MG with renal cell carcinoma (RCC) is not clear. Herein, we describe six cases of MG associated with ...

    Authors: Yiming Zheng, Jingjing Luo, Haiqiang Jin, Ran Liu, Hongjun Hao and Feng Gao

    Citation: BMC Neurology 2021 21:277

    Content type: Research article

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  7. Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Pathologically, it is characterized by eosinophilic hyaline intranuclear inclusions in the cells of the visceral organs as we...

    Authors: Atsuhiko Sugiyama, Takahiro Takeda, Mizuho Koide, Hajime Yokota, Hiroki Mukai, Yoshihisa Kitayama, Kazumoto Shibuya, Nobuyuki Araki, Ai Ishikawa, Sagiri Isose, Kimiko Ito, Kazuhiro Honda, Yoshitaka Yamanaka, Terunori Sano, Yuko Saito, Kimihito Arai…

    Citation: BMC Neurology 2021 21:273

    Content type: Case report

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  8. This article comprises a systematic review of the literature that aims at researching and analyzing the frequently applied guidelines for structuring national databases of epidemiological surveillance for moto...

    Authors: Ingridy Barbalho, Ricardo Valentim, Mário Dourado Júnior, Daniele Barros, Hércules Pedrosa Júnior, Felipe Fernandes, César Teixeira, Thaísa Lima, Jailton Paiva and Danilo Nagem

    Citation: BMC Neurology 2021 21:269

    Content type: Research article

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  9. Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy characterised by slowly progressive ptosis, dysphagia, and proximal limb muscle weakness. A common cause of OPMD is the short expans...

    Authors: Yo-suke Nishii, Yu-ichi Noto, Rei Yasuda, Takamasa Kitaoji, Shinji Ashida, Eijirou Tanaka, Narihiro Minami, Ichizo Nishino and Toshiki Mizuno

    Citation: BMC Neurology 2021 21:265

    Content type: Case report

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  10. Cranial nerve involvement is not commonly encountered in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); this is especially true for involvement of the hypoglossal nerve. Neither Beevor's sig...

    Authors: Huajian Zhao, Yiming Zheng, Lingchao Meng, Meng Yu, Wei Zhang, He Lv, Zhaoxia Wang, Hongjun Hao and Yun Yuan

    Citation: BMC Neurology 2021 21:244

    Content type: Case report

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  11. Hereditary motor and sensory neuropathy, also referred to as Charcot–Marie–Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. This duplication causes CMT ...

    Authors: Nozomu Matsuda, Koushi Ootsuki, Shunsuke Kobayashi, Ayaka Nemoto, Hitoshi Kubo, Shin-ichi Usami and Kazuaki Kanani

    Citation: BMC Neurology 2021 21:243

    Content type: Case report

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  12. Sarcopenia is the age-related loss of muscle mass and strength. Undiagnosed late-onset neuromuscular disorders need to be considered in the differential diagnosis of sarcopenia.

    Authors: Fabian Hofmeister, Lisa Baber, Uta Ferrari, Stefan Hintze, Stefanie Jarmusch, Sabine Krause, Peter Meinke, Stefan Mehaffey, Carl Neuerburg, Fabiana Tangenelli, Benedikt Schoser and Michael Drey

    Citation: BMC Neurology 2021 21:241

    Content type: Research article

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  13. Spinal neuroarthropathy (SNA), also known as Charcot spine, is an uncommon aggressive arthropathy, secondary to loss of proprioceptive and nociceptive feedback from the spine. A diagnosis of SNA is frequently ...

    Authors: Barbara Limberger Nedel, Juliana Avila Duarte and Fernando Gerchman

    Citation: BMC Neurology 2021 21:202

    Content type: Case report

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  14. Morvan syndrome (MoS) is a rare autoimmune syndrome associated with antibodies against two kinds of potassium channel proteins, contactin associated protein-like 2 (CASPR2) and leucine-rich glioma inactivated ...

    Authors: Shui-Jing Zhang, Yan-Yan Xue, Hao Yu and Qing-Qing Tao

    Citation: BMC Neurology 2021 21:185

    Content type: Case report

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  15. The 32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases, including those with spinal muscular atrop...

    Authors: Tina Duong, Jessica Braid, Hannah Staunton, Aurelie Barriere, Fani Petridis, Johannes Reithinger, Rosangel Cruz, Jill Jarecki, Mencia De Lemus, Nicole Gusset, Ria Broekgaarden, Sharan Randhawa, Jessica Flynn, Rob Arbuckle, Sonia Reif, Lida Yang…

    Citation: BMC Neurology 2021 21:143

    Content type: Research article

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    The Correction to this article has been published in BMC Neurology 2021 21:354

  16. During the Coronavirus disease 2019 (COVID-19) pandemic, different neurological manifestations have been observed. However, only a few cases of Guillain-Barre syndrome (GBS) and COVID-19 have been reported. Th...

    Authors: Nuvia Mackenzie, Eva Lopez-Coronel, Alberto Dau, Dieb Maloof, Salvador Mattar, Jesus Tapia Garcia, Briyis Fontecha, Cristina M. Lanata and Hernan Felipe Guillen-Burgos

    Citation: BMC Neurology 2021 21:135

    Content type: Case report

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  17. Polish physicians and researchers lack an extensive and precise instrument in their native language for evaluating sexual dysfunction in individuals with neurogenic disorders. The aim of this study was to crea...

    Authors: Mikolaj Przydacz, Tomasz Golabek, Przemyslaw Dudek and Piotr Chlosta

    Citation: BMC Neurology 2021 21:103

    Content type: Research article

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  18. To report our experience with a group of patients referred for refractory CIDP who fulfilled “definite” electrodiagnostic EFNS criteria for CIDP but were found to have an alternate diagnosis.

    Authors: Orly Moshe-Lilie, Erik Ensrud, Thomas Ragole, Chahin Nizar, Diana Dimitrova and Chafic Karam

    Citation: BMC Neurology 2021 21:94

    Content type: Research article

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  19. Multiple acyl-CoA dehydrogenase deficiency (MADD) is a treatable lipid metabolism disorder that presents as myopathy and episodic metabolic crisis. The metabolic crisis is typically associated with prolonged f...

    Authors: Po-Yu Lin, Wen-Chen Liang, Wei-An Liao and Yuan-Ting Sun

    Citation: BMC Neurology 2021 21:93

    Content type: Case report

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  20. Despite its initial association with sensory neuropathies, anti-fibroblast growth factor receptor 3 (FGFR3) antibodies have been since reported with a broad range of neuropathies and clinical features. The aim...

    Authors: Elanagan Nagarajan, Seung Ah Kang, Carmen Holmes and Raghav Govindarajan

    Citation: BMC Neurology 2021 21:74

    Content type: Research article

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  21. Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated fibro-inflammatory condition characterized by high serum IgG4 concentrations and tissue infiltration by IgG4-positive plasma cells. Reports hav...

    Authors: Jeong Bin Bong, Dong Kun Lee, Min A Lee, Byoung Wook Hwang and Hyun Goo Kang

    Citation: BMC Neurology 2021 21:41

    Content type: Case report

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  22. Surgery is a potential trigger of Guillain-Barré syndrome (GBS), a disorder which leads to an autoimmune-mediated attack of peripheral nerves. The present study was designed to explore clinical features of pos...

    Authors: Qiaoyu Gong, Shuping Liu, Yin Liu, Jiajia Yao, Xiujuan Fu, Zheman Xiao and Zuneng Lu

    Citation: BMC Neurology 2021 21:40

    Content type: Research article

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  23. Dystrophinopathies are the most common type of inherited muscular diseases. Muscle biopsy and genetic tests are effective to diagnose the disease but cost much more than primary hospitals can reach. The more a...

    Authors: Mei Yang, Yiming Zheng, Zhiying Xie, Zhaoxia Wang, Jiangxi Xiao, Jue Zhang and Yun Yuan

    Citation: BMC Neurology 2021 21:13

    Content type: Research article

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  24. Some epidemiologic studies have reported a sharp increase in multiple sclerosis (MS) incidence in different provinces in Iran. This report aimed to investigate more closely the increasing trend of MS incidence...

    Authors: Ali Hosseinzadeh, Behnaz Sedighi, Jamshid Kermanchi, Mohammad Heidari and Ali Akbar Haghdoost

    Citation: BMC Neurology 2021 21:7

    Content type: Research article

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  25. Personalized ENCALS survival prediction model reliably estimates the personalized prognosis of patients with amyotrophic lateral sclerosis. Concerns were raised on discussing personalized prognosis without causin...

    Authors: Remko M. van Eenennaam, Willeke J. Kruithof, Michael A. van Es, Esther T. Kruitwagen-van Reenen, Henk-Jan Westeneng, Johanna M. A. Visser-Meily, Leonard H. van den Berg and Anita Beelen

    Citation: BMC Neurology 2020 20:446

    Content type: Research article

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  26. Difficult procedures of severe rigid spinal deformity increase the risk of intraoperative neurological injury. Here, we aimed to investigate the preoperative and intraoperative risk factors for postoperative n...

    Authors: Jian Chen, Xie-xiang Shao, Wen-yuan Sui, Jing-fan Yang, Yao-long Deng, Jing Xu, Zi-fang Huang and Jun-lin Yang

    Citation: BMC Neurology 2020 20:433

    Content type: Research article

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  27. Myasthenia gravis is an autoimmune disease mediated by antibodies against proteins associated with the postsynaptic membrane of the neuromuscular junction. Several drugs may trigger an exacerbation of the dise...

    Authors: Velina Nedkova-Hristova, Valentina Vélez-Santamaría and Carlos Casasnovas

    Citation: BMC Neurology 2020 20:403

    Content type: Case report

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  28. Although South Africa (SA) is facing a high prevalence of HIV infection, there is no literature from this region on a link between Bell’s palsy and HIV. The aim of this study was to identify the occurrence of ...

    Authors: Dali Magazi, Benjamin Longombenza, Siyazi Mda, Kees Van der Meyden, Marcus Motshwane, Mirabel Nanjoh and Olakunle Towobola

    Citation: BMC Neurology 2020 20:381

    Content type: Research article

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  29. Dynamic somatosensory evoked potentials (DSSEP) can be used to disclose abnormalities of ascending sensory pathways at dynamic positions and diagnose cervical spondylotic myelopathy (CSM). However, radiographi...

    Authors: Zhengran Yu, Kaiyuan Lin, Jiacheng Chen, Kuan-Hung Chen, Wei Guo, Yuhu Dai, Yuguang Chen, Xuenong Zou and Xinsheng Peng

    Citation: BMC Neurology 2020 20:367

    Content type: Research article

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  30. Myasthenia gravis (MG) is an autoimmune disease caused by antibodies that block or destroy nicotinic acetylcholine receptors at the neuromuscular junction. Most of MG patients need immunosuppression agents in ...

    Authors: Masaru Yanagihashi, Ryuichi Okamoto, Harumi Morioka, Masahiro Sawada, Shingo Matsumoto, Takanori Ikeda and Osamu Kano

    Citation: BMC Neurology 2020 20:319

    Content type: Case report

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  31. Interleukin 36 (IL-36), as a gradually recognized cytokine, is involved in the occurrence and evolution of autoimmune diseases. Nevertheless, the relationship between myasthenia gravis (MG) and IL-36 is rarely...

    Authors: Qiu-Xia Zhang, Yue Li, Shu-Min Jiang, Lin-Jie Zhang, Ming Yi, Jing Wang, Yuan Qi, Li Yang and Chun-Sheng Yang

    Citation: BMC Neurology 2020 20:307

    Content type: Research article

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  32. Variants in the SLC25A1 gene are associated with a severe neurometabolic disease, D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). A report in 2014 presented the first account of congenital myasthenic syndrome ...

    Authors: Wenhui Li, Min Zhang, Linmei Zhang, Yiyun Shi, Lei Zhao, Bingbing Wu, Xihua Li and Shuizhen Zhou

    Citation: BMC Neurology 2020 20:278

    Content type: Case report

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  33. Restoring community walking remains a highly valued goal for persons recovering from traumatic incomplete spinal cord injury (SCI). Recently, studies report that brief episodes of low-oxygen breathing (acute i...

    Authors: Avantika Naidu, Denise M. Peters, Andrew Q. Tan, Stella Barth, Andrea Crane, Angela Link, Swapna Balakrishnan, Heather B. Hayes, Chloe Slocum, Ross D. Zafonte and Randy D. Trumbower

    Citation: BMC Neurology 2020 20:273

    Content type: Study protocol

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  34. Psychopathology and personality traits may influence the course of autoimmune disorders. With this prospective longitudinal cohort study, we aimed to assess personality, stress and depression in myasthenia pat...

    Authors: Anca Bogdan, Carolina Barnett, Abdulrahman Ali, Mohammed AlQwaifly, Alon Abraham, Shabber Mannan, Eduardo Ng and Vera Bril

    Citation: BMC Neurology 2020 20:261

    Content type: Research article

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  35. The onset of myasthenia (MG) gravis with anti-muscle-specific tyrosine kinase (MuSK) antibodies most commonly peaks in the fourth decade of life, and MG with MuSK antibodies (MuSK-MG) rarely coexists with a ma...

    Authors: Shoko Sakano, Hirofumi Matsuyama, Hidehiro Ishikawa, Akihiro Shindo, Yuichiro Ii, Keita Matsuura, Minoru Mizutani, Norikazu Kawada and Hidekazu Tomimoto

    Citation: BMC Neurology 2020 20:240

    Content type: Case report

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  36. It is well demonstrated that immunosuppressants can reduce, but not eliminate the risk of generalized development in ocular myasthenia gravis (OMG). In this study, we aimed to explore the predictive factors of...

    Authors: Jiaqi Ding, Sijia Zhao, Kaixi Ren, Dan Dang, Hongzeng Li, Fang Wu, Min Zhang, Zhuyi Li and Jun Guo

    Citation: BMC Neurology 2020 20:238

    Content type: Research article

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  37. Myositis is a recognised complication of numerous systemic viral infections including influenza. In adults the typical pattern is characterised by myalgia and marked proximal muscle weakness in upper and lower...

    Authors: Jakub Scaber, Adam J Molyneux, Camilla Buckley and Alastair J S Webb

    Citation: BMC Neurology 2020 20:237

    Content type: Case report

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  38. Surgery is usually the treatment of choice for patients with cervical compressive myelopathy (CCM). Motor evoked potential (MEP) has proved to be helpful tool in evaluating intraoperative cervical spinal cord ...

    Authors: Shujie Wang, Zhifu Ren, Jia Liu, Jianguo Zhang and Ye Tian

    Citation: BMC Neurology 2020 20:221

    Content type: Research article

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  39. Multiple sclerosis (MS) causes significant economic burden to the patients, families, health systems and society. This study aimed to estimate the annual economic costs incurred by patients with multiple scler...

    Authors: Ali Imani, Farid Gharibi, Ali Khezri, Nasrin Joudyian and Koustuv Dalal

    Citation: BMC Neurology 2020 20:205

    Content type: Research article

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  40. Cognitive dysfunction affects up to 70% of people with progressive MS (PMS). It can exert a deleterious effect on activities of daily living, employment and relationships. Preliminary evidence suggests that pe...

    Authors: Anthony Feinstein, Maria Pia Amato, Giampaolo Brichetto, Jeremy Chataway, Nancy Chiaravalloti, Ulrik Dalgas, John DeLuca, Peter Feys, Massimo Filippi, Jennifer Freeman, Cecilia Meza, Matilde Inglese, Robert W. Motl, Maria Assunta Rocca, Brian M. Sandroff, Amber Salter…

    Citation: BMC Neurology 2020 20:204

    Content type: Study protocol

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  41. Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiol...

    Authors: Doris G. Leung, Alex E. Bocchieri, Shivani Ahlawat, Michael A. Jacobs, Vishwa S. Parekh, Vladimir Braverman, Katherine Summerton, Jennifer Mansour, Genila Bibat, Carl Morris, Shannon Marraffino and Kathryn R. Wagner

    Citation: BMC Neurology 2020 20:196

    Content type: Research article

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  42. Parkinson’s disease is one of the most frequent causes of disability among the older adults. It is a chronic-progressive neuro-degenerative disease, characterized by several motor disorders. Balance disorders ...

    Authors: Roberta Bevilacqua, Elvira Maranesi, Mirko Di Rosa, Riccardo Luzi, Elisa Casoni, Nadia Rinaldi, Renato Baldoni, Fabrizia Lattanzio, Valentina Di Donna, Giuseppe Pelliccioni and Giovanni Renato Riccardi

    Citation: BMC Neurology 2020 20:186

    Content type: Study protocol

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  43. In individuals with neuromuscular diseases (NMD), symptoms of muscle weakness, fatigue and pain may limit physical activity. Inactivity leads to reduced physical fitness, which further complicates daily life f...

    Authors: Sander Oorschot, Merel A. Brehm, Annerieke C. van Groenestijn, Fieke S. Koopman, Camiel Verhamme, Filip Eftimov, Judith G. M. Jelsma, Harald T. Jorstad, Frans Nollet and Eric L. Voorn

    Citation: BMC Neurology 2020 20:184

    Content type: Study protocol

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  44. This meta-analysis was designed to investigate the long-term efficacy and safety between cervical disc arthroplasty (CDA) and anterior cervical discectomy and fusion (ACDF) in treating cervical disc degenerati...

    Authors: Yijian Zhang, Nanning Lv, Fan He, Bin Pi, Hao Liu, Angela Carley Chen, Huilin Yang, Mingming Liu and Xuesong Zhu

    Citation: BMC Neurology 2020 20:143

    Content type: Research article

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