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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. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. The autophagic vacuolar myopathies (AVM) are a group of inherited myopathies defined by the presence of autophagic vacuoles in pathological muscle specimens. AVM can be categorized into three groups: acid malt...

    Authors: Kota Bokuda, Keizo Sugaya, Shunichiro Tamura, Kazuhito Miyamoto, Shiro Matsubara and Takashi Komori

    Citation: BMC Neurology 2012 12:140

    Content type: Case report

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  23. Chronic fatigue and inactivity are prevalent problems among individuals with multiple sclerosis (MS) and may independently or interactively have detrimental effects on quality of life and ability to participat...

    Authors: Matthew Plow, Marcia Finlayson, Robert W Motl and Francois Bethoux

    Citation: BMC Neurology 2012 12:122

    Content type: Study protocol

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  24. The aim of this study was to perform a longitudinal assessment using Quantitative Muscle Testing (QMT) in a cohort of ambulant boys affected by Duchenne muscular dystrophy (DMD) and to correlate the results of...

    Authors: Alberto Lerario, Serena Bonfiglio, MariaPia Sormani, Andrea Tettamanti, Sarah Marktel, Sara Napolitano, Stefano Previtali, Marina Scarlato, MariaGrazia Natali-Sora, Eugenio Mercuri, Nereo Bresolin, Tiziana Mongini, Giancarlo Comi, Roberto Gatti, Fabio Ciceri, Giulio Cossu…

    Citation: BMC Neurology 2012 12:91

    Content type: Research article

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  25. Little is known about the clinical features and true survival risk factors in Chinese Han population. We conducted the current study to investigate the clinical features, long-term outcome and true potential i...

    Authors: Xiao Ming Shu, Xin Lu, Yao Xie and Guo Chun Wang

    Citation: BMC Neurology 2011 11:143

    Content type: Research article

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  26. Neuropathic pain must be correctly diagnosed for optimal treatment. The questionnaire named Neuropathic Pain Symptom Inventory (NPSI) was developed in its original French version to evaluate the different symp...

    Authors: Claudia Sommer, Helmut Richter, Jan P Rogausch, Jule Frettlöh, Margitta Lungenhausen and Christoph Maier

    Citation: BMC Neurology 2011 11:104

    Content type: Research article

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  27. Long-term immunosuppression is often required in myasthenia gravis (MG). There are no published trials using methotrexate (MTX) in MG. The steroid-sparing efficacy of azathioprine (AZA) has been demonstrated a...

    Authors: Jeannine M Heckmann, Amanullah Rawoot, Kathleen Bateman, Rudi Renison and Motasim Badri

    Citation: BMC Neurology 2011 11:97

    Content type: Research article

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  28. Myotonic dystrophy type 1 (MD1) is one of the most prevalent neuromuscular diseases, yet very little is known about how MD1 affects the lives of couples and how they themselves manage individually and together...

    Authors: Edith HC Cup, Astrid Kinébanian, Ton Satink, Allan J Pieterse, Henk T Hendricks, Rob AB Oostendorp, Gert Jan van der Wilt and Baziel GM van Engelen

    Citation: BMC Neurology 2011 11:86

    Content type: Research article

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  29. Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. Neuromuscular abnormality and autonomic system (ANS) dysfuction in CTX are rarely examined in large-scale studies in the literature. We stu...

    Authors: Shu-Fang Chen, Nai-Wen Tsai, Chung-Chih Chang, Cheng-Hsien Lu, Chi-Ren Huang, Yao-Chung Chuang and Wen-Neng Chang

    Citation: BMC Neurology 2011 11:63

    Content type: Research article

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  30. Patients with diabetic neuropathy (DPN) and fibromyalgia differ substantially in pathogenetic factors and the spatial distribution of the perceived pain. We questioned whether, despite these obvious difference...

    Authors: Jana Koroschetz, Stefanie E Rehm, Ulrich Gockel, Mathias Brosz, Rainer Freynhagen, Thomas R Tölle and Ralf Baron

    Citation: BMC Neurology 2011 11:55

    Content type: Research article

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  31. Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases de...

    Authors: Alexander G Munts, Winfred Mugge, Thomas S Meurs, Alfred C Schouten, Johan Marinus, G Lorimer Moseley, Frans CT van der Helm and Jacobus J van Hilten

    Citation: BMC Neurology 2011 11:53

    Content type: Research article

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