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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. 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

    Content type: Research article

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  2. 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

    Content type: Research article

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  3. Patisiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of hereditary ATTR (hATTR) amyloidosis, a progressive disease associated with significant disability, morbid...

    Authors: David Adams, Ole B. Suhr, Peter J. Dyck, William J. Litchy, Raina G. Leahy, Jihong Chen, Jared Gollob and Teresa Coelho

    Citation: BMC Neurology 2017 17:181

    Content type: Study protocol

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  4. The disease course and early signs specific to ATTR Ala97Ser, the most common endemic mutation in Taiwan, have not been well described. Since new medications can slow down the rate of disease progression, the ...

    Authors: Hui-Ching Hsu, Ming-Feng Liao, Jung-Lung Hsu, Ai-Lun Lo, Hung-Chou Kuo, Rong-Kuo Lyu, Victor Chien-Chia Wu, Chih-Wei Wang and Long-Sun Ro

    Citation: BMC Neurology 2017 17:178

    Content type: Research article

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  5. Adult neurogenesis persists through life at least in classic neurogenic niches. Neurogenesis has been previously described as reduced in neurodegenerative diseases. There is not much knowledge about is adult n...

    Authors: Lucía Galán, Ulises Gómez-Pinedo, Antonio Guerrero, Jose Manuel García-Verdugo and Jorge Matías-Guiu

    Citation: BMC Neurology 2017 17:173

    Content type: Research article

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  6. Conditioned pain modulation (CPM) evaluates the pain modulating effect of a noxious conditioning stimulus (CS) on another noxious test stimulus (TS), mostly based solely on subjective pain ratings. We used pai...

    Authors: Oliver Höffken, Özüm S. Özgül, Elena K. Enax-Krumova, Martin Tegenthoff and Christoph Maier

    Citation: BMC Neurology 2017 17:167

    Content type: Research article

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  7. Neuropathy is one of the major complications of type 2 diabetes mellitus. Our first aim was to determine the clinical characteristics of a population of diabetic patients with different types of neuropathy. Ou...

    Authors: Angélica Carbajal-Ramírez, Rebeca García-Macedo, Carlos Manlio Díaz-García, Carmen Sanchez-Soto, Araceli Méndez Padrón, Jorge Escobedo de la Peña, Miguel Cruz and Marcia Hiriart

    Citation: BMC Neurology 2017 17:161

    Content type: Research article

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  8. Chronic immune sensory polyradiculopathy (CISP) identifies a progressive acquired peripheral dysimmune neuropathy recognized as a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) variant. We de...

    Authors: Angelo Maurizio Clerici, Eduardo Nobile-Orazio, Marco Mauri, Federico Sergio Squellati and Giorgio Giovanni Bono

    Citation: BMC Neurology 2017 17:127

    Content type: Case report

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  9. There are marked ethnic differences in the susceptibility to the long-term diabetic vascular complications including sensory neuropathy. The vascular endothelial growth factor (VEGF) +405 (C/G) and −460 (T/C) ...

    Authors: Karima Zitouni, Lorna Tinworth and Kenneth Anthony Earle

    Citation: BMC Neurology 2017 17:125

    Content type: Research article

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  10. There are considerable phenotypic and neuroimmune overlaps between myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and multiple sclerosis (MS). While the precise aetiologies of both MS and ME/CFS a...

    Authors: Vageesh Jain, Amit Arunkumar, Caroline Kingdon, Eliana Lacerda and Luis Nacul

    Citation: BMC Neurology 2017 17:117

    Content type: Research article

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  11. Seronegative ocular myasthenia gravis (OMG) is diagnosed by ocular symptoms with supporting SFEMG, typically of frontalis or extensor digitorum muscles. We aimed to determine the sensitivity and specificity of...

    Authors: Goran Rakocevic, Mark Moster and Mary Kay Floeter

    Citation: BMC Neurology 2017 17:108

    Content type: Research article

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  12. Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare a...

    Authors: Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala and Kari Majamaa

    Citation: BMC Neurology 2017 17:96

    Content type: Case report

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  13. Chronic graft-versus-host disease (GVHD) appears several months following allogenic hematopoietic stem cell transplantation (HSCT) and is clinically analogous to autoimmune disorder. Polymyositis is a common n...

    Authors: Masahiko Fukatsu, Takenobu Murakami, Hiroshi Ohkawara, Shunichi Saito, Kazuhiko Ikeda, Suguru Kadowaki, Itaru Sasaki, Mari Segawa, Tomoko Soeda, Akihiko Hoshi, Hiroshi Takahashi, Akiko Shichishima-Nakamura, Kazuei Ogawa, Yoshihiro Sugiura, Hitoshi Ohto, Yasuchika Takeishi…

    Citation: BMC Neurology 2017 17:93

    Content type: Case report

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  14. The aim of this study was to examine the stability and relative validity (RV) of the Neuromuscular Disease Impact Profile (NMDIP) using criterion-related groups. In a previous study the NMDIP-scales showed goo...

    Authors: Isaäc Bos, Jan B.M. Kuks, Josué Almansa, Hubertus P.H. Kremer and Klaske Wynia

    Citation: BMC Neurology 2017 17:87

    Content type: Research article

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  15. Undifferentiated connective tissue disease (UCTD) is widely considered to be a distinct clinical entity, and now divided into two subgroups: stable UCTD and early UCTD. The most frequent onset symptoms of UCTD...

    Authors: Ying Du, Chuan Li, Dai-di Zhao, Jia-rui Lu, Wei Zhang and Zhu-yi Li

    Citation: BMC Neurology 2017 17:85

    Content type: Case report

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  16. Neuromuscular electrical stimulation (NMES) is commonly used to activate skeletal muscles and reverse muscle atrophy in clinical populations. Clinical recommendations for NMES suggest the use of short pulse wi...

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

    Citation: BMC Neurology 2017 17:82

    Content type: Research article

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  17. Clinical predictors for myasthenia gravis relapse and ocular myasthenia gravis secondary generalization during the first two years after disease onset remain incompletely identified. This study attempts to inv...

    Authors: Lili Wang, Yun Zhang and Maolin He

    Citation: BMC Neurology 2017 17:77

    Content type: Research article

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  18. Conjugal amyotrophic lateral sclerosis is rare, with significant effects on psychological and care needs. We report a case of conjugal amyotrophic lateral sclerosis disease from central Scotland. This case is ...

    Authors: P. M. Fernandes, M. R. Macleod, A. Bateman, S. Abrahams and S. Pal

    Citation: BMC Neurology 2017 17:64

    Content type: Case report

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  19. Reports on the clinical meaningfulness of outcome measures in spinal muscular atrophy (SMA) are rare. In this two-part study, our aim was to explore patients’ and caregivers’ views on the clinical relevance of...

    Authors: Maria C. Pera, Giorgia Coratti, Nicola Forcina, Elena S. Mazzone, Mariacristina Scoto, Jacqueline Montes, Amy Pasternak, Anna Mayhew, Sonia Messina, Maria Sframeli, Marion Main, Robert Muni Lofra, Tina Duong, Danielle Ramsey, Sally Dunaway, Rachel Salazar…

    Citation: BMC Neurology 2017 17:39

    Content type: Research article

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  20. Non–neuronal acetylcholine (ACh) restricts autoimmune responses and attenuates inflammation by cholinergic anti-inflammation pathway. To date, the implication of ACh in myasthenia gravis (MG) remained unexplor...

    Authors: Bin Han, Chao Zhang, Shoufeng Liu, Yiping Xia, Hao Sun, Zhongying Gong, Alain R. Simard, Qiang Liu and Junwei Hao

    Citation: BMC Neurology 2017 17:28

    Content type: Research article

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  21. Accidents or neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) can lead to progressing, extensive, and complete paralysis leaving patients aware but unable to communicate (locked-in state). B...

    Authors: Helena Erlbeck, Ursula Mochty, Andrea Kübler and Ruben G. L. Real

    Citation: BMC Neurology 2017 17:3

    Content type: Research article

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  23. Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene loc...

    Authors: Jing Miao, Jia-chun Feng, Dan Zhu and Xue-fan Yu

    Citation: BMC Neurology 2016 16:255

    Content type: Case report

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  25. Despite substantial research into the topic and valiant surgical efforts, reconstruction of peripheral nerve injury remains a challenging surgery. This study was conducted to evaluate the effectiveness of axon...

    Authors: Jamshid Mohammadi, Hamdollah Delaviz, Bahram Mohammadi, Hamoun Delaviz and Parastou Rad

    Citation: BMC Neurology 2016 16:237

    Content type: Research article

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  26. Fatigue is reported as one of the most disabling symptoms and is common among persons living with late effects of polio. Although fatigue has been studied in the context of people living with late effects of p...

    Authors: I. Santos Tavares Silva, K. S. Sunnerhagen, C. Willén and I. Ottenvall Hammar

    Citation: BMC Neurology 2016 16:230

    Content type: Research article

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  27. Myasthenic symptoms can be present in patients with amyotrophic lateral sclerosis (ALS). These symptoms have been considered to be caused by the degeneration of distal motor neurons and the neuromuscular junct...

    Authors: Hisashi Takahashi, Yu-ichi Noto, Naoki Makita, Yukie Kushimura-Okada, Ryotaro Ishii, Akihiro Tanaka, Tomoyuki Ohara, Shunya Nakane, Osamu Higuchi, Masanori Nakagawa and Toshiki Mizuno

    Citation: BMC Neurology 2016 16:229

    Content type: Case report

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  28. The burden of neurological diseases is increasing in developing countries. However, there is a prominent scarcity of literature on the incidence of neurological diseases in sub-Saharan Africa. This study was t...

    Authors: Mark Kaddumukasa, Leviticus Mugenyi, Martin N. Kaddumukasa, Edward Ddumba, Michael Devereaux, Anthony Furlan, Martha Sajatovic and Elly Katabira

    Citation: BMC Neurology 2016 16:227

    Content type: Research article

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  29. We have previously reported using two-step cluster analysis to classify myasthenia gravis (MG) patients into the following five subtypes: ocular MG; thymoma-associated MG; MG with thymic hyperplasia; anti-acet...

    Authors: Tetsuya Akaishi, Yasushi Suzuki, Tomihiro Imai, Emiko Tsuda, Naoya Minami, Yuriko Nagane, Akiyuki Uzawa, Naoki Kawaguchi, Masayuki Masuda, Shingo Konno, Hidekazu Suzuki, Hiroyuki Murai, Masashi Aoki and Kimiaki Utsugisawa

    Citation: BMC Neurology 2016 16:225

    Content type: Research article

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  30. To examine labour market participation and long-term sick leave following a diagnosis with myasthenia gravis (MG) compared with the general Danish population and for specific subgroups of MG patients.

    Authors: Asger Frost, Marie Louise Svendsen, Jes Rahbek, Christina Malmose Stapelfeldt, Claus Vinther Nielsen and Thomas Lund

    Citation: BMC Neurology 2016 16:224

    Content type: Research article

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  33. Myasthenia gravis is an autoimmune neuromuscular disorder, which has only rarely been reported to co-manifest with myositis. The diagnosis of concomitant myositis in patients with myasthenia gravis is clinical...

    Authors: M. I. Stefanou, L. Komorowski, S. Kade, A. Bornemann, U. Ziemann and M. Synofzik

    Citation: BMC Neurology 2016 16:172

    Content type: Case report

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  34. Amyotrophic lateral sclerosis (ALS) is a fatal, rapidly progressive neurodegenerative disease that mainly affects the motor system. A number of potentially neuroprotective and neurorestorative disease-modifyin...

    Authors: G. Grolez, C. Moreau, V. Danel-Brunaud, C. Delmaire, R. Lopes, P. F. Pradat, M. M. El Mendili, L. Defebvre and D. Devos

    Citation: BMC Neurology 2016 16:155

    Content type: Research article

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  35. Recent studies have reported that peripheral neuropathy (PN) is common in patients with Parkinson’s disease (PD) and raised the possibility that levodopa neurotoxicity is the main culprit.

    Authors: Davi Farias de Araújo, Antônio Pinto de Melo Neto, Ítalo Sérgio Cavalcante Oliveira, Beatriz Soares Brito, Ineusi Teixeira de Araújo, Ingrid Sousa Barros, José Wellington Oliveira Lima, Wagner Goes Horta and Francisco de Assis Aquino Gondim

    Citation: BMC Neurology 2016 16:139

    Content type: Research article

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  36. Facioscapulohumeral muscular dystrophy (FSHD; OMIM 158900 & 158901) is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant inheritance pattern. One of the major unsolved questions i...

    Authors: Rianne J. M. Goselink, Tim H. A. Schreuder, Karlien Mul, Nicol C. Voermans, Maaike Pelsma, Imelda J. M. de Groot, Nens van Alfen, Bas Franck, Thomas Theelen, Richard J. Lemmers, Jean K. Mah, Silvère M. van der Maarel, Baziel G. van Engelen and Corrie E. Erasmus

    Citation: BMC Neurology 2016 16:138

    Content type: Study protocol

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  37. Conditioned Pain Modulation (CPM) is often used to assess human descending pain inhibition. Nine different studies on the test-retest-reliability of different CPM paradigms have been published, but none of the...

    Authors: Julia Gehling, Tina Mainka, Jan Vollert, Esther M. Pogatzki-Zahn, Christoph Maier and Elena K. Enax-Krumova

    Citation: BMC Neurology 2016 16:125

    Content type: Research article

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  38. In myotonic dystrophy type 1 (DM1), only one FDG-PET study used statistical parametric mapping (SPM) showing frontal reduced FDG-uptake. Our aim was to 1) identify the FDG-PET area with the most severe reduced...

    Authors: Dimitri Renard, Laurent Collombier, Christel Castelli, Jean-Pierre Pouget, Pierre-Olivier Kotzki and Vincent Boudousq

    Citation: BMC Neurology 2016 16:100

    Content type: Research article

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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  45. 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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  46. 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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  47. 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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  49. 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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  50. 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

    Published on:

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