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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. Content type: Study protocol

    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

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  2. Content type: Research article

    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

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  3. Content type: Case report

    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

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  4. Content type: Case report

    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

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  5. Content type: Research article

    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

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  6. Content type: Case report

    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

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  7. Content type: Research article

    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

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  8. Content type: Case report

    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

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  9. Content type: Research article

    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

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  10. Content type: Case report

    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

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  11. Content type: Case report

    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

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  12. Content type: Study protocol

    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

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  13. Content type: Research article

    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

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  14. Content type: Research article

    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

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  15. Content type: Research article

    Riluzole is the only approved oral drug for amyotrophic lateral sclerosis (ALS). We performed a retrospective study including ALS patients treated with riluzole, focusing on adverse events.

    Authors: Aya Inoue-Shibui, Masaaki Kato, Naoki Suzuki, Junpei Kobayashi, Yoshiki Takai, Rumiko Izumi, Yuuko Kawauchi, Hiroshi Kuroda, Hitoshi Warita and Masashi Aoki

    Citation: BMC Neurology 2019 19:72

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  16. Content type: Case report

    Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and c...

    Authors: Mengxin Bao, Fei Mao, Zhangning Zhao, Gaoting Ma, Guangjun Xu, Wenjuan Xu, Huan Chen and Meijia Zhu

    Citation: BMC Neurology 2019 19:32

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  17. Content type: Research article

    Fatigability has emerged as an important dimension of physical impairment in patients with Spinal Muscular Atrophy (SMA). At present reliable and valid outcome measures for both mildly and severely affected pa...

    Authors: Bart Bartels, Laura E. Habets, Marloes Stam, Renske I. Wadman, Camiel A. Wijngaarde, Marja A. G. C. Schoenmakers, Tim Takken, Erik H.J. Hulzebos, W. Ludo van der Pol and Janke F. de Groot

    Citation: BMC Neurology 2019 19:21

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  18. Content type: Research article

    Stiff Person Syndrome (SPS) is an under-diagnosed disorder that affects mobility and the quality of life of affected patients. The aim of the study is to describe the natural history of SPS, the extent of accu...

    Authors: Goran Rakocevic, Harry Alexopoulos and Marinos C. Dalakas

    Citation: BMC Neurology 2019 19:1

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  19. Content type: Case report

    Multiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to diagnosis. Guillain-Barré syndrome (GBS) is an acute-onset autoimmune-mediated peripheral neuropat...

    Authors: Daojun Hong, Yanyan Yu, Yuyao Wang, Yan Xu and Jun Zhang

    Citation: BMC Neurology 2018 18:219

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  20. Content type: Research article

    Assessment on the prognosis of amyotrophic lateral sclerosis (ALS) is becoming a focus of research in recent years since there is no effective treatment. The aim of the research is to explore the major factors...

    Authors: Chun-Jiang Yu, Li Wang, Sen-Lin Mao, Ying Zhang, Ling-Ling Song, Ling-Yu Cai and Ye Tao

    Citation: BMC Neurology 2018 18:211

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  21. Content type: Research article

    Amyotrophic Lateral Sclerosis (ALS) is a rapid progressive neurodegenerative disease, characterized by a selective loss of motor neurons, brain stem and spinal cord which leads to deterioration of motor abilit...

    Authors: Isabela Lopes Trevizan, Talita Dias Silva, Helen Dawes, Thais Massetti, Tânia Brusque Crocetta, Francis Meire Favero, Acary Souza Bulle Oliveira, Luciano Vieira de Araújo, Ana Carolina Costa Santos, Luiz Carlos de Abreu, Shelly Coe and Carlos Bandeira de Mello Monteiro

    Citation: BMC Neurology 2018 18:209

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  22. Content type: Case report

    We reported a case of an adult that presented Guillain-Barré syndrome (GBS) after bacterial meningitis which was secondary to chronic suppurative otitis media (CSOM). To our knowledge, this is the first case i...

    Authors: Li Ding, Zhongjun Chen, Yan Sun, Haiping Bao, Xiao Wu, Lele Zhong, Pei Zhang, Yongzhong Lin and Ying Liu

    Citation: BMC Neurology 2018 18:208

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  23. Content type: Research article

    To assess the feasibility of using automated capture of Electronic Medical Record (EMR) data to build predictive models for amyotrophic lateral sclerosis (ALS) outcomes.

    Authors: Alex G. Karanevich, Luke J. Weisbrod, Omar Jawdat, Richard J. Barohn, Byron J. Gajewski, Jianghua He and Jeffrey M. Statland

    Citation: BMC Neurology 2018 18:205

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  24. Content type: Case report

    Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of mu...

    Authors: Jing Miao, Xiao-jing Wei, Xue-mei Liu, Zhi-xia Kang, Yan-lu Gao and Xue-fan Yu

    Citation: BMC Neurology 2018 18:154

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  25. Content type: Case report

    Only five patients have previously been reported to harbor mutations in the MT-TT gene encoding mitochondrial tRNA threonine. The m.15923A > G mutation has been found in three severely affected children. One of t...

    Authors: Mikko Kärppä, Laura Kytövuori, Markku Saari and Kari Majamaa

    Citation: BMC Neurology 2018 18:149

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  26. Content type: Research article

    Due to brain plasticity a transection of a median or ulnar nerve results in profound changes in the somatosensory areas in the brain. The permanent sensory deprivation after a peripheral nerve injury might inf...

    Authors: Pernilla Vikström, Anders Björkman, Ingela K. Carlsson, Anna-Karin Olsson and Birgitta Rosén

    Citation: BMC Neurology 2018 18:146

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  27. Content type: Case report

    The cardinal symptoms of auto-immune myasthenia gravis are fatigue and weakness. Endurance events such as marathon running would seem incompatible with this chronic disease. Many patients stop sport altogether...

    Authors: Simone Birnbaum, Tarek Sharshar, Bruno Eymard, Marie Theaudin, Pierre Portero and Jean-Yves Hogrel

    Citation: BMC Neurology 2018 18:145

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  28. Content type: Case report

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involve...

    Authors: Yusuke Sakiyama, Eiji Matsuura, Yoshimitsu Maki, Akiko Yoshimura, Masahiro Ando, Miwa Nomura, Kazuya Shinohara, Ryuji Saigo, Tomonori Nakamura, Akihiro Hashiguchi and Hiroshi Takashima

    Citation: BMC Neurology 2018 18:134

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  29. Content type: Research article

    Cardiac autonomic neuropathy (CAN) in diabetes is among the strongest risk markers for future global and cardiovascular mortality. The aim of this study was to analyse CAN prevalence and to compare the associatio...

    Authors: Anca Moţăţăianu, Smaranda Maier, Zoltan Bajko, Septimiu Voidazan, Rodica Bălaşa and Adina Stoian

    Citation: BMC Neurology 2018 18:126

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  30. Content type: Research article

    Segmental zoster paresis (SZP) of limbs, characterized by focal weakness of extremity, is recognized as a rare complication of herpes zoster (HZ). The following study analyzes the clinical characteristics and ...

    Authors: Ying Liu, Bing-Yun Wu, Zhen-Shen Ma, Juan-Juan Xu, Bing Yang, Heng Li and Rui-Sheng Duan

    Citation: BMC Neurology 2018 18:121

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  31. Content type: Case report

    The motor and sensory symptoms caused by compressive radial neuropathy are well-known, but the involvement of the autonomic nervous system or the dermatologic symptoms are less well known. We report an unusual...

    Authors: Jong Hyeon Ahn, Dae Joong Kim, Jung-Joon Sung, Yoon-Ho Hong, Suk-Won Ahn, Jeong Jin Park and Byung-Nam Yoon

    Citation: BMC Neurology 2018 18:120

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  32. Content type: Case report

    We present a patient fulfilling the electrophysiological criteria for definite chronic inflammatory demyelinating polyneuropathy (CIDP), antibody-positive myasthenia gravis (MG), and membranous glomerulonephri...

    Authors: Saskia Bolz, Andreas Totzeck, Kerstin Amann, Mark Stettner, Christoph Kleinschnitz and Tim Hagenacker

    Citation: BMC Neurology 2018 18:113

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  33. Content type: Case report

    Cutaneous and systemic plasmacytosis are skin disorders characterized by cutaneous polyclonal plasma cell infiltration accompanied by polyclonal hypergammaglobulinemia. Cutaneous plasmacytosis involvement is l...

    Authors: Taku Hatano, Masashi Takanashi, Hitoshi Tsuchihashi, Shin-Ichi Ueno, Arisa Hayashida, Yutaka Tsukune, Kazuaki Kanai, Yasushi Shimo and Nobutaka Hattori

    Citation: BMC Neurology 2018 18:112

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  34. Content type: Case report

    Miller Fisher syndrome (MFS) and Bickerstaff’s Brainstem Encephalitis (BBE) share some clinical features and a common immunological profile characterized by anti-GQ1b antibodies. Some MFS patients overlap with...

    Authors: Angela Puma, Jeanne Benoit, Sabrina Sacconi and Antonino Uncini

    Citation: BMC Neurology 2018 18:101

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  35. Content type: Case report

    Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in t...

    Authors: Jing Miao, Fei-fei Su, Xue-mei Liu, Xiao-jing Wei, Yun Yuan and Xue-fan Yu

    Citation: BMC Neurology 2018 18:79

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  36. Content type: Case report

    POEMS syndrome is a plasma cell disorder, which clinically manifests from paraneoplastic syndrome: polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes. The most comm...

    Authors: Panitha Jindahra, Charungthai Dejthevaporn, Pimjai Niparuck, Jariya Waisayarat, Piyaphon Cheecharoen, Thanatporn Threetong, Purit Petpiroon, Tharikarn Sujirakul, Anuchit Poonyathalang and Kavin Vanikieti

    Citation: BMC Neurology 2018 18:64

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  37. Content type: Study protocol

    Diabetic peripheral neuropathy (DPN) is the most common complication of diabetes mellitus with significant clinical sequelae that can affect a patient’s quality of life. Metabolic and microvascular factors are...

    Authors: Gesa Meyer-Hamme, Thomas Friedemann, Henry Johannes Greten, Rosemarie Plaetke, Christian Gerloff and Sven Schroeder

    Citation: BMC Neurology 2018 18:40

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  38. Content type: Research article

    Neuromuscular electrical stimulation (NMES) is commonly used in skeletal muscles in people with spinal cord injury (SCI) with the aim of increasing muscle recruitment and thus muscle force production. NMES has...

    Authors: Vanesa Bochkezanian, Robert U. Newton, Gabriel S. Trajano, Amilton Vieira, Timothy S. Pulverenti and Anthony J. Blazevich

    Citation: BMC Neurology 2018 18:17

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  39. Content type: Research article

    Recent studies shows that hyperbaric oxygen (HBO) therapy exerts some protective effects against neural injuries. The purpose of this study was to determine the neuroprotective effects of HBO following sciatic...

    Authors: Zahra Shams, Ali Reza khalatbary, Hassan Ahmadvand, Zohreh Zare and Kosar Kian

    Citation: BMC Neurology 2017 17:220

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  40. Content type: Research article

    Humanistic burden considers the impact of an illness on a patient’s health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also conside...

    Authors: Benedikt Schoser, Deborah A. Bilder, David Dimmock, Digant Gupta, Emma S. James and Suyash Prasad

    Citation: BMC Neurology 2017 17:202

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  41. Content type: Research article

    It remains an urgent need for early recognition of disease severity, treatment option and outcome of Guillain-Barré syndrome (GBS). The chief complaint may be quickly obtained in clinic and is one of the candi...

    Authors: Ying Wang, Pei Shang, Meiying Xin, Jing Bai, Chunkui Zhou and Hong-Liang Zhang

    Citation: BMC Neurology 2017 17:200

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