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Neuromuscular disorders and peripheral neurology

Section edited by Jens Schmidt

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. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. Despite many benefits of the physical activity on physical and mental health of patients with Multiple Sclerosis (MS), the activity level in these patients is still very limited, and they continue to suffer fr...

    Authors: Nazanin Razazian, Mohsen Kazeminia, Hossein Moayedi, Alireza Daneshkhah, Shamarina Shohaimi, Masoud Mohammadi, Rostam Jalali and Nader Salari

    Citation: BMC Neurology 2020 20:93

    Content type: Research article

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  19. Taste disorder is a common symptom in the general population. Several studies have shown that patients with neurological disorders, such as amyotrophic lateral sclerosis and Parkinson’s disease, develop taste ...

    Authors: Nobuhiko Ohashi, Jin Nonami, Minori Kodaira, Kunihiro Yoshida and Yoshiki Sekijima

    Citation: BMC Neurology 2020 20:71

    Content type: Case report

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  20. Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognit...

    Authors: Junyang Wang, Ming Liu, Wenjie Shang, Zhongqin Chen and Guoping Peng

    Citation: BMC Neurology 2020 20:53

    Content type: Case report

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  21. Necrotizing myopathy (NM) is defined by the dominant pathological feature of necrosis of muscle fibers without substantial lymphocytic inflammatory infiltration. Anti-signal recognition particle (SRP)-antibody...

    Authors: Arika Hara, Ryota Amano, Hiroaki Yokote, Masahide Ijima, Satoshi Zeniya, Toshiki Uchihara, Sawako Yada, Mayumi Masumura, Hidenobu Takei, Ichizo Nishino and Shuta Toru

    Citation: BMC Neurology 2020 20:29

    Content type: Case report

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  22. Postural instability presents a common and disabling consequence of chemotherapy-induced peripheral neuropathy (CIPN). However, knowledge about postural behavior of CIPN patients is sparse. With this pilot stu...

    Authors: Sarah Kneis, Anja Wehrle, Daniela Dalin, Isabella Katharina Wiesmeier, Johann Lambeck, Albert Gollhofer, Hartmut Bertz and Christoph Maurer

    Citation: BMC Neurology 2020 20:23

    Content type: Research article

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  23. Persons with spinal cord injury/dysfunction (SCI/D) often take multiple medications to treat their secondary complications and chronic conditions (multimorbidity). Multiple healthcare and service providers are...

    Authors: Sara J. T. Guilcher, Amanda C. Everall, Tejal Patel, Tanya L. Packer, Sander L. Hitzig, Stephanie R. Cimino and Aisha K. Lofters

    Citation: BMC Neurology 2020 20:20

    Content type: Research article

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  24. Myasthenia gravis is a chronic, autoimmune, neuromuscular junction disorder characterized by skeletal muscle weakness. Current therapies for myasthenia gravis are associated with significant side effects. The ...

    Authors: Elizabeth Dansie Bacci, Karin S. Coyne, Jiat-Ling Poon, Linda Harris and Audra N. Boscoe

    Citation: BMC Neurology 2019 19:335

    Content type: Research article

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  25. The narcolepsy severity scale (NSS) was developed to measure the severity and consequences of symptoms in patients with narcolepsy. The scale has been validated in France, though no other studies have further ...

    Authors: Hui Ouyang, Fang Han, Qiwen Zheng and Jun Zhang

    Citation: BMC Neurology 2019 19:334

    Content type: Research article

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  26. Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH genes. We report a Chinese family of Southern Min origin with ...

    Authors: Wei Chen, Youqiao Zhang, Yifeng Ni, Shaoyu Cai, Xin Zheng, Frank L. Mastaglia and Jingshan Wu

    Citation: BMC Neurology 2019 19:330

    Content type: Case report

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  27. Little is known about the clinical phenotype of amyotrophic lateral sclerosis (ALS) in non-Caucasian populations. Here, we aimed to describe the clinical characteristics, prognostic factors and survival of Mex...

    Authors: Claudia Marisol Sánchez-Martínez, José Alberto Choreño-Parra, Lilia Nuñez-Orozco, Noel Placencia-Álvarez, Laura Marcela Alvis-Castaño and Parménides Guadarrama-Ortiz

    Citation: BMC Neurology 2019 19:261

    Content type: Research article

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  28. Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt.

    Authors: Cláudia R. C. Galvão, Priscilla M. A. Cavalcante, Ricardo Olinda, Zodja Graciani, Mayana Zatz, Fernando Kok, Silvana Santos and Selma Lancman

    Citation: BMC Neurology 2019 19:256

    Content type: Research article

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  29. Palbociclib is a selective well-tolerated antineoplastic drug used in the treatment of advanced HER2-negative, estrogen-receptor positive breast cancer that has shown significant improvement in progression-fre...

    Authors: Vardan Nersesjan, Klaus Hansen, Thomas Krag, Morten Duno and Tina D. Jeppesen

    Citation: BMC Neurology 2019 19:247

    Content type: Case report

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  30. Nocardiosis is a rare and life-threatening opportunistic infection in immunocompromised patients. Myasthenia gravis (MG) patients are potentially at risk of nocardia infection because of the use of immunosuppr...

    Authors: Shuhui Wang, Bin Jiang, Yao Li, Yanchang Shang, Zhengshan Liu and Yongbo Zhang

    Citation: BMC Neurology 2019 19:243

    Content type: Case report

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  31. Amyotrophic lateral sclerosis (ALS) is a fatal degenerative disease of a rapid course. In 25% of ALS sufferers, speech disorders occur as prodromal symptoms of the disease. Impaired communication affects physi...

    Authors: Wioletta Pawlukowska, Bartłomiej Baumert, Monika Gołąb-Janowska, Agnieszka Meller, Karolina Machowska-Sempruch, Agnieszka Wełnicka, Edyta Paczkowska, Iwona Rotter, Bogusław Machaliński and Przemysław Nowacki

    Citation: BMC Neurology 2019 19:241

    Content type: Research article

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  32. Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function. As molecularly ta...

    Authors: Samantha LoRusso, Nicholas E. Johnson, Michael P. McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A. Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M. Statland…

    Citation: BMC Neurology 2019 19:224

    Content type: Study protocol

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  33. Treatment of spasticity poses a major challenge in amyotrophic lateral sclerosis (ALS) patient management. Delta-9-tetrahydrocannabinol (THC):cannabidiol (CBD) oromucosal spray (THC:CBD), approved for the trea...

    Authors: Thomas Meyer, Andreas Funke, Christoph Münch, Dagmar Kettemann, André Maier, Bertram Walter, Annett Thomas and Susanne Spittel

    Citation: BMC Neurology 2019 19:222

    Content type: Research article

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  34. Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-relate...

    Authors: Juanjuan Chen, Jun Wu, Chunxi Han, Yao Li, Yuzu Guo and Xiaoxin Tong

    Citation: BMC Neurology 2019 19:198

    Content type: Case report

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  35. Pembrolizumab is an immune-checkpoints inhibitor that enhances the immune response against cancer cells and therefore is useful for the treatment of several carcinomas. However, pembrolizumab sometimes perturb...

    Authors: Hikaru Kamo, Taku Hatano, Kazuaki Kanai, Nozomi Aoki, Daiki Kamiyama, Kazumasa Yokoyama, Masashi Takanashi, Yuri Yamashita, Yasushi Shimo and Nobutaka Hattori

    Citation: BMC Neurology 2019 19:184

    Content type: Case report

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  36. Myasthenia gravis is the most common disease affecting the neuromuscular junction. The most common etiology among patients with juvenile myasthenia gravis is the production of antibodies against the acetylchol...

    Authors: Cheng-Che Chou, I-Chen Su, I-Jun Chou, Jainn-Jim Lin, Shih-Yun Lan, Yi-Shan Wang, Shu-Sing Kong, Yun-Ju Chen, Meng-Ying Hsieh, Po-Cheng Hung, Huei-Shyong Wang, Min-Liang Chou and Kuang-Lin Lin

    Citation: BMC Neurology 2019 19:170

    Content type: Research article

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  37. The coexistence of distinct neurodegenerative diseases in single cases has recently attracted greater attention. The phenotypic co-occurrence of progressive supranuclear palsy (PSP) and amyotrophic lateral scl...

    Authors: Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Maruyama Saladini, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume, Hiroyuki Morino, Hideshi Kawakami, Masato Hasegawa, Ryuji Kaji, Shigeo Murayama and Yuishin Izumi

    Citation: BMC Neurology 2019 19:168

    Content type: Case report

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  38. Familial amyloid polyneuropathy (FAP) or ATTRv (amyloid TTR variant) amyloidosis is a fatal hereditary disease characterized by the deposition of amyloid fibrils composed of transthyretin (TTR). The current di...

    Authors: Estefania P. Azevedo, Anderson B. Guimaraes-Costa, Christianne Bandeira-Melo, Leila Chimelli, Marcia Waddington-Cruz, Elvira M. Saraiva, Fernando L. Palhano and Debora Foguel

    Citation: BMC Neurology 2019 19:146

    Content type: Research article

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  39. Fulminant Guillain-Barré syndrome (GBS) is characterized clinically by rapid progression of severe symptoms, such as the absence of brainstem reflexes, complete tetraplegia and respiratory arrest. The clinical...

    Authors: Yoshitsugu Nakamura, Mikiko Motoki, Takahiko Hirose, Takafumi Hosokawa, Shimon Ishida and Shigeki Arawaka

    Citation: BMC Neurology 2019 19:145

    Content type: Case report

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  40. Myotonic Dystrophy 1 (DM1) causes progressive myopathy of extremity muscles. DM1 may also affect muscles of the trunk. The aim of this study was to investigate fat infiltration and muscle size in trunk muscles...

    Authors: Gro Solbakken, Bård Bjørnarå, Eva Kirkhus, Bac Nguyen, Gunnar Hansen, Jan C. Frich and Kristin Ørstavik

    Citation: BMC Neurology 2019 19:135

    Content type: Research article

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  41. Autoimmune encephalitis (AE) is a newly recognized autoimmune disorders in which the targets are proteins or receptors involved in synaptic transmission and neuronal excitability. α-amino-3-hydroxy-5-methyl-4-...

    Authors: Qingyang Luo, Xianghong Wu and Wen Huang

    Citation: BMC Neurology 2019 19:126

    Content type: Case report

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  42. Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic c...

    Authors: Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo and Yoshihisa Takiyama

    Citation: BMC Neurology 2019 19:125

    Content type: Case report

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  43. Type 2 Diabetes in Mexico has a high prevalence, 16–87% of patients may experience peripheral neuropathy. Early detection can prevent or halt its progression. The performance of Sudoscan in detecting neuropath...

    Authors: Angelica Carbajal-Ramírez, Julián A. Hernández-Domínguez, Mario A. Molina-Ayala, María Magdalena Rojas-Uribe and Adolfo Chávez-Negrete

    Citation: BMC Neurology 2019 19:109

    Content type: Study protocol

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  44. Lumbo-sacral radiculopathy (LSR) is a common musculoskeletal disorder for which patients seek medical care and referrals for advanced imaging. However, accurate diagnosis remains challenging. Neuropathic pain ...

    Authors: Nassib Tawa, Ina Diener, Quinette Louw and Anthea Rhoda

    Citation: BMC Neurology 2019 19:107

    Content type: Research article

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  45. Nutritional status is an important prognostic factor in Amyotrophic Lateral Sclerosis (ALS). We wished to study the safety, tolerability and efficacy of nutritional counseling with or without an mHealth applic...

    Authors: Anne Marie Wills, Jamie Garry, Jane Hubbard, Taylor Mezoian, Christopher T. Breen, Courtney Ortiz-Miller, Paige Nalipinski, Stacey Sullivan, James D. Berry, Merit Cudkowicz, Sabrina Paganoni, James Chan and Eric A. Macklin

    Citation: BMC Neurology 2019 19:104

    Content type: Research article

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