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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. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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