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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. Studies have shown a slight excess risk in Guillain-Barré syndrome (GBS) incidence associated with A(H1N1)pdm09 vaccination campaign and seasonal trivalent influenza vaccine immunisations in 2009–2010. We aime...

    Authors: Enrique Alcalde-Cabero, Javier Almazán-Isla, Fernando J. García López, José Ramón Ara-Callizo, Fuencisla Avellanal, Carlos Casasnovas, Carlos Cemillán, José Ignacio Cuadrado, Jacinto Duarte, María Dolores Fernández-Pérez, Óscar Fernández, Juan Antonio García Merino, Rosa García Montero, Dolores Montero, Julio Pardo, Francisco Javier Rodríguez-Rivera…

    Citation: BMC Neurology 2016 16:75

    Content type: Research article

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  2. Mechanisms of inflammation and protein accumulation are crucial in inclusion body myositis (IBM). Recent evidence demonstrated that intravenous immunoglobulin failed to suppress cell-stress mediators in IBM. H...

    Authors: Karsten Schmidt, Konstanze Kleinschnitz, Goran Rakocevic, Marinos C. Dalakas and Jens Schmidt

    Citation: BMC Neurology 2016 16:48

    Content type: Research article

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  3. Morvan syndrome is a rare disorder characterized by the combination of peripheral nerve hyperexcitability, encephalopathy and dysautonomia with marked insomnia. It was reported to have association to antibodie...

    Authors: Li Zhang, Qiang Lu, Hong-Zhi Guan, Jun-Hua Mei, Hai-Tao Ren, Ming-Sheng Liu, Bin Peng and Li-Ying Cui

    Citation: BMC Neurology 2016 16:37

    Content type: Case report

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  4. Many persons affected with poliomyelitis develop post-polio syndrome (PPS) later in their life. Recently, the effectiveness of Exercise Therapy (ET) and Cognitive Behavioural Therapy (CBT) for PPS has been eva...

    Authors: Minne Bakker, Karen Schipper, Fieke S. Koopman, Frans Nollet and Tineke A. Abma

    Citation: BMC Neurology 2016 16:23

    Content type: Research article

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  5. Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. Patients with typical CTX show neurological dysfunction inclu...

    Authors: Masaru Yanagihashi, Osamu Kano, Tomoya Terashima, Yuji Kawase, Sayori Hanashiro, Masahiro Sawada, Yuichi Ishikawa, Nobuyuki Shiraga, Ken Ikeda and Yasuo Iwasaki

    Citation: BMC Neurology 2016 16:21

    Content type: Case report

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  6. The term paraproteinemic neuropathy describes a heterogeneous set of neuropathies characterized by the presence of homogeneous immunoglobulin in the serum. An abnormal clonal proliferation of B-lymphocytes or ...

    Authors: Richard A. Rison and Said R. Beydoun

    Citation: BMC Neurology 2016 16:13

    Content type: Review

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  7. Friedreich Ataxia (FRDA) is a neurodegenerative disorder characterized by gait and balance abnormalities, sensory loss, weakness, loss of reflexes, and ataxia. Previously, two cases of FRDA and Nephrotic Syndr...

    Authors: Julianna E. Shinnick, Charles J. Isaacs, Sharon Vivaldi, Kimberly Schadt and David R. Lynch

    Citation: BMC Neurology 2016 16:3

    Content type: Case report

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  8. Muscular weakness in myasthenia gravis (MG) is commonly assessed using Quantitative Myasthenia Gravis Score (QMG). More objective and quantitative measures may complement the use of clinical scales and might d...

    Authors: Sarah Hoffmann, Jana Siedler, Alexander U. Brandt, Sophie K. Piper, Siegfried Kohler, Christian Sass, Friedemann Paul, Ralf Reilmann and Andreas Meisel

    Citation: BMC Neurology 2015 15:265

    Content type: Research article

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  9. Central neuropathic pain has a prevalence of 40 % in patients with spinal cord injury. Electroencephalography (EEG) studies showed that this type of pain has identifiable signatures, that could potentially be ...

    Authors: Muhammad Abul Hassan, Matthew Fraser, Bernard A. Conway, David B. Allan and Aleksandra Vuckovic

    Citation: BMC Neurology 2015 15:200

    Content type: Research article

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  10. Due to lack of any curative therapy for ALS, symptomatic treatment and maintenance of quality of life (QoL) is very important. We aimed to characterize the affected domains of QoL in ALS patients and to identi...

    Authors: Sonja Körner, Katja Kollewe, Susanne Abdulla, Antonia Zapf, Reinhard Dengler and Susanne Petri

    Citation: BMC Neurology 2015 15:84

    Content type: Research article

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  11. Chronic fatigue is present in more than 60% of the patients with a neuromuscular disease and can be their most disabling symptom. In combination with other impairments, fatigue often results in low levels of p...

    Authors: Yvonne Veenhuizen, Edith HC Cup, Jan T Groothuis, Jan CM Hendriks, Eddy MM Adang, Baziel GM van Engelen and Alexander CH Geurts

    Citation: BMC Neurology 2015 15:58

    Content type: Study protocol

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  12. Since chronic fatigue syndrome (CFS) and fibromyalgia (FM) often co-exist, some believe they reflect the same process, somatization. Against that hypothesis are data suggesting FM but not CFS was common in pat...

    Authors: Slobodanka Pejovic, Benjamin H Natelson, Maria Basta, Julio Fernandez-Mendoza, Fauzia Mahr and Alexandros N Vgontzas

    Citation: BMC Neurology 2015 15:53

    Content type: Research article

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  13. Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare complication of Crohn's disease (CD), and it is uncertain whether it is associated with CD itself or with its treatment. We describe a case of...

    Authors: Suji Kim, Seok-Jae Kang, Ki-Wook Oh, Byung Kyu Ahn, Hang Lak Lee, Dong Soo Han, Kiseok Jang and Young Seo Kim

    Citation: BMC Neurology 2015 15:48

    Content type: Case report

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  14. To obtain evidence for the clinical and cost-effectiveness of treatments for patients with rare diseases is a challenge. Non-dystrophic myotonia (NDM) is a group of inherited, rare muscle diseases characterize...

    Authors: Bas C Stunnenberg, Willem Woertman, Joost Raaphorst, Jeffrey M Statland, Robert C Griggs, Janneke Timmermans, Christiaan G Saris, Bas J Schouwenberg, Hans M Groenewoud, Dick F Stegeman, Baziel G M van Engelen, Gea Drost and Gert Jan van der Wilt

    Citation: BMC Neurology 2015 15:43

    Content type: Study protocol

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  15. Postpolio syndrome (PPS) is characterized by progressive disabilities that develop decades after prior paralytic poliomyelitis. Because chronic inflammation may be the process underlying the development of PPS...

    Authors: Yao-Hsien Huang, Hung-Chou Chen, Kuang-Wei Huang, Po-Chih Chen, Chaur-Jong Hu, Chin-Piao Tsai, Ka-Wai Tam and Yi-Chun Kuan

    Citation: BMC Neurology 2015 15:39

    Content type: Research article

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  16. Clinical studies have tested the use of an engineered herpes virus to treat pain. We hypothesized that subcutaneous injections of an engineered herpes virus that expresses enkephalin would attenuate orofacial ...

    Authors: Phillip R Kramer, Mikhail Umorin and Larry L Bellinger

    Citation: BMC Neurology 2015 15:34

    Content type: Research article

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  17. Hyperechogenicity of the substantia nigra was recently reported in patients with sporadic ALS with a frequency similar to PD. Data on the diagnostic utility compared to key differential diagnoses of ALS do not...

    Authors: Andreas Hermann, Ulrike Reuner, Jochen Schaefer, Panteha Fathinia, Tordis Leimert, Jan Kassubek, Mario Leimert, Albert C Ludolph and Alexander Storch

    Citation: BMC Neurology 2015 15:33

    Content type: Research article

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  18. Chronic inflammatory demyelinating polyneuropathy (CIDP) as a pure sensory variant is rarely encountered. Therefore the best treatment option is hard to define.

    Authors: Elisabeth Chroni, Dimitra Veltsista, Evangelia Gavanozi, Tavitha Vlachou, Panagiotis Polychronopoulos and Panagiotis Papathanasopoulos

    Citation: BMC Neurology 2015 15:27

    Content type: Case report

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  19. The clinical features of myositis related with Human T-cell leukemia virus type 1 (HTLV-1) remains unclear despite epidemiological studies suggesting inflammatory myopathy associated with the virus.

    Authors: Eiji Matsuura, Akiko Yoshimura, Satoshi Nozuma, Itsuro Higuchi, Ryuji Kubota and Hiroshi Takashima

    Citation: BMC Neurology 2015 15:18

    Content type: Case report

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  20. Patients presenting with bilateral trigeminal hypoesthesia may go on to have trigeminal isolated sensory neuropathy, a benign, purely trigeminal neuropathy, or facial-onset sensory motor neuronopathy (FOSMN), ...

    Authors: Giorgio Cruccu, Elena M Pennisi, Giovanni Antonini, Antonella Biasiotta, Giulia di Stefano, Silvia La Cesa, Caterina Leone, Salvatore Raffa, Claudia Sommer and Andrea Truini

    Citation: BMC Neurology 2014 14:248

    Content type: Research article

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  21. Polyneuropathy organomegaly endocrinopathy M-protein skin changes (POEMS) syndrome is a rare cause of polyneuropathy. Calciphylaxis, a severe disease leading to necrotic ulcers of the skin, is associated with ...

    Authors: Dorothee Heck, Miriam Mergen, Athina Ganner, Jaroslav Pelisek, Irina Mader, Cornelius Weiller and Wolf-Dirk Niesen

    Citation: BMC Neurology 2014 14:210

    Content type: Case report

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  22. Guillain-Barré syndrome (GBS) is an autoimmune condition characterized by peripheral neuropathy. The pathogenesis of GBS is not fully understood, and the mechanism of how intravenous immunoglobulin (IVIG) cure...

    Authors: Hui Qing Hou, Jun Miao, Xue Dan Feng, Mei Han, Xiu Juan Song and Li Guo

    Citation: BMC Neurology 2014 14:202

    Content type: Research article

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  23. Survival in amyotrophic lateral sclerosis varies considerably. About one third of the patients die within 12 months after first diagnosis. The early recognition of fast progression is essential for patients an...

    Authors: Joachim Wolf, Anton Safer, Johannes C Wöhrle, Frederick Palm, Wilfred A Nix, Matthias Maschke and Armin J Grau

    Citation: BMC Neurology 2014 14:197

    Content type: Research article

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  24. Fibromyalgia syndrome (FMS) is a chronic pain syndrome of unknown etiology. There is increasing evidence for small nerve fiber impairment in a subgroup of patients with FMS. We investigated whether skin cytoki...

    Authors: Nurcan Üçeyler, Susanne Kewenig, Waldemar Kafke, Sarah Kittel-Schneider and Claudia Sommer

    Citation: BMC Neurology 2014 14:185

    Content type: Research article

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  25. High frequency repetitive transcranial magnetic stimulation (rTMS) targetted to different cortical regions (primary motor/sensory, prefrontal) are known to alter somatosensory responses. The mechanism(s) for t...

    Authors: Paul Sacco, Michael Prior, Helen Poole and Turo Nurmikko

    Citation: BMC Neurology 2014 14:166

    Content type: Research article

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  26. Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. I...

    Authors: Kristýna Stehlíková, Daniela Skálová, Jana Zídková, Lenka Mrázová, Petr Vondráček, Radim Mazanec, Stanislav Voháňka, Jana Haberlová, Markéta Hermanová, Josef Zámečník, Ondřej Souček, Hana Ošlejšková, Nina Dvořáčková, Pavla Solařová and Lenka Fajkusová

    Citation: BMC Neurology 2014 14:154

    Content type: Research article

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  27. Since there has been no conclusive evidence regarding the treatment of ocular myasthenia, treatment guidelines were recently issued by the European Federation of Neurological Societies/European Neurological So...

    Authors: Shigeaki Suzuki, Hiroyuki Murai, Tomihiro Imai, Yuriko Nagane, Masayuki Masuda, Emiko Tsuda, Shingo Konno, Satoru Oji, Shunya Nakane, Masakatsu Motomura, Norihiro Suzuki and Kimiaki Utsugisawa

    Citation: BMC Neurology 2014 14:142

    Content type: Research article

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  28. Neurogenic detrusor overactivity (NDO) leads to impaired health-related quality of life (HRQoL), productivity, and greater healthcare resource burden. The humanistic and economic burden may be more apparent in...

    Authors: Derek H Tang, Danielle Colayco, James Piercy, Vaishali Patel, Denise Globe and Michael B Chancellor

    Citation: BMC Neurology 2014 14:74

    Content type: Research article

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  29. Marchiafava-Bignami disease (MBD) is a rare neurologic complication of chronic alcohol consumption that is characterized by callosal lesions involving demyelination and necrosis. Various reversible neurologic ...

    Authors: Yasunobu Hoshino, Yuji Ueno, Hideki Shimura, Nobukazu Miyamoto, Masao Watanabe, Nobutaka Hattori and Takao Urabe

    Citation: BMC Neurology 2013 13:208

    Content type: Case report

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  30. Multiple sclerosis (MS) has a major impact on the physical, psychological and social life of patients and their families. The aim of this study was to evaluate the different perceptions of patients and caregiv...

    Authors: Lorena Lorefice, Gioia Mura, Giulia Coni, Giuseppe Fenu, Claudia Sardu, Jessica Frau, Giancarlo Coghe, Marta Melis, Maria Giovanna Marrosu and Eleonora Cocco

    Citation: BMC Neurology 2013 13:177

    Content type: Research article

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  31. Initial symptoms of amyotrophic lateral sclerosis (ALS) are often subtle and can delay diagnosis. This exploratory analysis was conducted to better characterize the pre-diagnosis pathway undertaken by patients...

    Authors: James R Williams, David Fitzhenry, Lauren Grant, Derek Martyn and Douglas A Kerr

    Citation: BMC Neurology 2013 13:160

    Content type: Research article

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  32. Besides the defining involvement of upper and lower motor neurons, the involvement of extramotor structures has been increasingly acknowledged in amyotrophic lateral sclerosis (ALS).

    Authors: Johannes Thorns, Henk Jansma, Thomas Peschel, Julian Grosskreutz, Bahram Mohammadi, Reinhard Dengler and Thomas F Münte

    Citation: BMC Neurology 2013 13:148

    Content type: Research article

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  33. Although muscle weakness is a hallmark of facioscapulohumeral muscular dystrophy (FSHD), the molecular mechanisms that lead to weakness in FSHD remain largely unknown. Recent studies suggest aberrant expressio...

    Authors: Saskia Lassche, Coen AC Ottenheijm, Nicol C Voermans, Henk-Jan Westeneng, Barbara H Janssen, Silvère M van der Maarel, Maria T Hopman, George W Padberg, Ger JM Stienen and Baziel GM van Engelen

    Citation: BMC Neurology 2013 13:144

    Content type: Study protocol

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  34. Adherence to disease-modifying therapies (DMTs) results in the reduction of the number and severity of relapses and delays the progression of multiple sclerosis (MS). Patients with lower adherence rates experi...

    Authors: Neetu Agashivala, Ning Wu, Safiya Abouzaid, You Wu, Edward Kim, Luke Boulanger and David W Brandes

    Citation: BMC Neurology 2013 13:138

    Content type: Research article

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  35. Few studies have focused on fatigue in myasthenia gravis (MG), and fatigue in relation to the autonomic system has never been systematically explored in these patients. The study aimed to document the prevalen...

    Authors: Ahmed Elsais, Vegard B Wyller, Jon Håvard Loge and Emilia Kerty

    Citation: BMC Neurology 2013 13:132

    Content type: Research article

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  36. Retired athletes with a history of sports concussions experience cognitive and motor declines with aging, and the risk of severe neurodegenerative conditions is magnified in this population. The present study ...

    Authors: Louis De Beaumont, Sébastien Tremblay, Luke C Henry, Judes Poirier, Maryse Lassonde and Hugo Théoret

    Citation: BMC Neurology 2013 13:109

    Content type: Research article

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  37. Cardiomyopathy is reported in Duchenne and Becker muscle dystrophy patients and female carriers. Brain Natriuretic peptide (BNP) is a hormone produced mainly by ventricular cardiomyocytes and its production is...

    Authors: Steven Schade van Westrum, Lukas Dekker, Rob de Haan, Erik Endert, Ieke Ginjaar, Marianne de Visser and Anneke van der Kooi

    Citation: BMC Neurology 2013 13:88

    Content type: Research article

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  38. Cerebral palsy (CP) results from a static brain lesion during pregnancy or early life and remains the most common cause of physical disability in children (1 in 500). While the brain lesion is static, the phys...

    Authors: Roslyn N Boyd, Rachel Jordan, Laura Pareezer, Anne Moodie, Christine Finn, Belinda Luther, Evyn Arnfield, Aaron Pym, Alex Craven, Paula Beall, Kelly Weir, Megan Kentish, Meredith Wynter, Robert Ware, Michael Fahey, Barry Rawicki…

    Citation: BMC Neurology 2013 13:57

    Content type: Study protocol

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  39. Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. We set out to investigate small fiber conduction in Fabry patients using pain-related evoked potentials (P...

    Authors: Nurcan Üçeyler, Ann-Kathrin Kahn, Daniela Kramer, Daniel Zeller, Jordi Casanova-Molla, Christoph Wanner, Frank Weidemann, Zaza Katsarava and Claudia Sommer

    Citation: BMC Neurology 2013 13:47

    Content type: Research article

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  40. Hereditary myopathy with early respiratory failure (HMERF) was described in several North European families and recently linked to a titin gene (TTN) mutation. We independently studied HMERF-like diseases with th...

    Authors: Camilo Toro, Montse Olivé, Marinos C Dalakas, Kumaraswami Sivakumar, Juan M Bilbao, Felix Tyndel, Noemí Vidal, Eva Farrero, Nyamkhishig Sambuughin and Lev G Goldfarb

    Citation: BMC Neurology 2013 13:29

    Content type: Research article

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  41. Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy. Yet, underlying pathomechanisms of muscle fibre damage have remained elusive. In...

    Authors: Charlotte Fischer, Konstanze Kleinschnitz, Arne Wrede, Ingrid Muth, Niels Kruse, Ichizo Nishino and Jens Schmidt

    Citation: BMC Neurology 2013 13:24

    Content type: Research article

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  42. This paper provides a strategy to obtain a reliable estimate of the incidence rate for Amyotrophic lateral sclerosis based on data from the National Registry of Rare Diseases (NRRD). In fact, unobserved cases ...

    Authors: Irene Rocchetti, Domenica Taruscio and Daniela Pierannunzio

    Citation: BMC Neurology 2012 12:160

    Content type: Research article

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  43. Posterior reversible encephalopathy syndrome (PRES) has been increasingly identified in patients with systemic lupus erythematosus (SLE) owing to the advance in neuroimaging techniques. Prompt diagnosis is piv...

    Authors: Bin Liu, Xuan Zhang, Feng-chun Zhang, Yuan Yao, Ri-zhi Zhou, Miao-Miao Xin and Li-Qin Wang

    Citation: BMC Neurology 2012 12:152

    Content type: Research article

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