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neuromuscular disorder

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https://www.readbyqxmd.com/read/28544275/recessive-mutations-in-msto1-cause-mitochondrial-dynamics-impairment-leading-to-myopathy-and-ataxia
#1
Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28539691/goals-set-by-patients-using-the-icf-model-before-receiving-botulinum-injections-and-their-relation-to-spasticity-distribution
#2
Kevin Choi, Jaclyn Peters, Andrew Tri, Elizabeth Chapman, Ayako Sasaki, Farooq Ismail, Chris Boulias, Shannon Reid, Chetan P Phadke
Purpose: Goal Attainment Scaling (GAS) is used to assess functional gains in response to treatment. Specific characteristics of the functional goals set by individuals receiving botulinum toxin type A (BoNTA) injections for spasticity management are unknown. The primary objectives of this study were to describe the characteristics of the goals set by patients before receiving BoNTA injections using the International Classification of Functioning, Disability and Health (ICF) and to determine whether the pattern of spasticity distribution affected the goals set...
2017: Physiotherapy Canada. Physiothérapie Canada
https://www.readbyqxmd.com/read/28539391/reevaluation-of-reflex-responses-of-the-human-masseter-muscle-to-electrical-lip-stimulation
#3
Paulius Uginčius, Gizem Yilmaz, Oguz Sebik, Kemal Sitki Turker
We examined the reflex response of the human masseter muscle to electrical stimulation of the lip using both single motor unit and surface electromyogram based methods. Using the classical analysis methods, reflex response to mild electrical stimuli generated two distinct short-lasting inhibitions. This pattern may reflect the development of combinations of short and long latency inhibitory postsynaptic potentials as a result of the mildly painful electrical lip stimulation. However, this pattern appearing in the classical analysis methods may have developed as a consequence of earlier responses and may not be genuine...
May 24, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28538252/concurrent-paraspinous-myopathy-and-myasthenia-gravis
#4
Alissa E Romano, Zaid Al-Qudah, Henry J Kaminski, Bashar Katirji, Karim Salame
Paraspinous myopathy is a rare neuromuscular disorder characterized by selective involvement of the cervical, thoracic, or lumbar muscles. Leading clinical features include a bent spine or dropped head (antecollis). In myasthenia gravis (MG), patients may have camptocormia secondary to neuromuscular junction dysfunction of the paraspinal muscles, and this condition usually responds to acetylcholinesterase inhibitors or immunosuppressive treatments. However, concomitant MG and paraspinous myopathy with histologic and electrophysiologic evidence of myopathic changes of the paraspinal muscles has only been reported twice in the literature...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28527082/usefulness-of-an-occlusal-device-in-the-treatment-of-medication-overuse-headache-and-persistent-idiopathic-facial-pain-preliminary-results
#5
H A Didier, M Curone, V Tullo, A H Didier, R Cornalba, A B Giannì, G Bussone
There is a debate in literature about the therapeutic usefulness of oral devices in patients suffering from Medication Overuse Headache (MOH) or in patients suffering from Persistent Idiopathic Facial Pain (PIFP). From the case histories of 3356 patients, referred to us with a diagnosis of chronic craniofacial pain for assessment of the eventual application of an occlusal device to correct an impaired neuromuscular relationship between the mandible and the maxilla, we selected, following the criteria of the International Classification of Headache Disorders (ICHD-3beta), two groups of patients suffering from MOH and PIFP...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28522225/genetic-screening-of-spinal-muscular-atrophy-using-a-real-time-modified-cop-pcr-technique-with-dried-blood-spot-dna
#6
Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Kenta Nakanishi, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Poh San Lai, Yasuhiro Takeshima, Atsuko Takeuchi, Yoshihiro Bouike, Maya Okamoto, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletion. SMA is the leading genetic cause of infant death, and has been considered an incurable disease. However, a recent clinical trial with an antisense oligonucleotide drug has shown encouraging clinical efficacy. Thus, early and accurate detection of SMN1 deletion may improve prognosis of many infantile SMA patients. METHODS: A total of 88 DNA samples (37 SMA patients, 12 carriers and 39 controls) from dried blood spots (DBS) on filter paper were analyzed...
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28520769/optimal-method-for-assessment-of-respiratory-muscle-strength-in-neuromuscular-disorders-using-sniff-nasal-inspiratory-pressure-snip
#7
Marta Kaminska, Francine Noel, Basil J Petrof
BACKGROUND: The ability to accurately determine respiratory muscle strength is vitally important in patients with neuromuscular disorders (NMD). Sniff nasal inspiratory pressure (SNIP), a test of inspiratory muscle strength, is easier to perform for many NMD patients than the more commonly used determination of maximum inspiratory pressure measured at the mouth (MIP). However, due to an inconsistent approach in the literature, the optimal technique to perform the SNIP maneuver is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28516284/short-chain-acyl-coa-dehydrogenase-deficiency-from-gene-to-cell-pathology-and-possible-disease-mechanisms
#8
REVIEW
Zahra Nochi, Rikke Katrine Jentoft Olsen, Niels Gregersen
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. Individuals with symptomatic SCADD may show relatively severe phenotype, while the majority of those who are diagnosed through newborn screening by tandem mass spectrometry may remain asymptomatic. As such, the associated clinical symptoms are very diverse, ranging from severe metabolic or neuromuscular disabilities to asymptomatic...
May 17, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28506261/a-possible-role-of-low-regulatory-t-cells-in-anti-acetylcholine-receptor-antibody-positive-myasthenia-gravis-after-bone-marrow-transplantation
#9
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, Takayuki Ikezoe, Yoshikazu Ugawa
BACKGROUND: 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 neuromuscular disorder in chronic GVHD, but myasthenia gravis (MG) is extremely rare. Hence, its pathophysiology and treatment have not been elucidated. CASE PRESENTATION: A 63-year-old man with a history of chronic GVHD presented with ptosis, dropped head, and dyspnea on exertion, which had worsened over the previous several months...
May 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28503469/motor-neuron-disease-presenting-with-acute-respiratory-failure-a-case-study
#10
Hyeonjun Oh, Seong Woong Kang, Won Ah Choi, Jang Woo Lee, Miri Suh, Eun Young Kim
Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28500219/mechanisms-of-enhanced-phrenic-long-term-facilitation-in-sod1-g93a-rats
#11
Nicole L Nichols, Irawan Satriotomo, Latoya L Allen, Ashley M Grebe, Gordon S Mitchell
Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease, causing muscle paralysis and death from respiratory failure. Effective means to preserve/restore ventilation are necessary to increase the quality and duration of life in ALS patients. At disease end-stage in a rat ALS model (SOD1(G93A)), acute intermittent hypoxia (AIH) restores phrenic nerve activity to normal levels via enhanced phrenic long-term facilitation (pLTF). Mechanisms enhancing pLTF in end-stage SOD1(G93A) rats are not known...
May 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28499810/prevalence-of-late-onset-pompe-disease-in-portuguese-patients-with-diaphragmatic-paralysis-dipper-study
#12
M J Guimarães, J C Winck, B Conde, A Mineiro, M Raposo, J Moita, A Marinho, J M Silva, N Pires, S André, C Loureiro
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several different conditions, which may also cause diaphragmatic paralysis, a protocol was created to search for the diagnosis of Pompe disease and exclude other possible causes...
May 9, 2017: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/28498949/proteolytic-cleavage-is-required-for-functional-neuroligin-2-maturation-and-trafficking-in-drosophila
#13
Renjun Tu, Jinjun Qian, Menglong Rui, Nana Tao, Mingkuan Sun, Yan Zhuang, Huihui Lv, Junhai Han, Moyi Li, Wei Xie
Neuroligins are transmembrane cell adhesion molecules playing essential roles in synapse development and function. Genetic mutations in neuroligin genes have been linked with some neurodevelopmental disorders such as autism. These mutated Neuroligins are mostly retained in the endoplasmic reticulum (ER). However, the mechanisms underlying normal Neuroligin maturation and trafficking have remained largely unknown. Here, we found that Drosophila Neuroligin 2 (DNlg2) undergoes proteolytic cleavage in the ER in a variety of Drosophila tissues throughout developmental stages...
May 11, 2017: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/28495807/neurologic-serious-adverse-events-associated-with-nivolumab-plus-ipilimumab-or-nivolumab-alone-in-advanced-melanoma-including-a-case-series-of-encephalitis
#14
James Larkin, Bartosz Chmielowski, Christopher D Lao, F Stephen Hodi, William Sharfman, Jeffrey Weber, Karijn P M Suijkerbuijk, Sergio Azevedo, Hewei Li, Daniel Reshef, Alexandre Avila, David A Reardon
BACKGROUND: Despite unprecedented efficacy across multiple tumor types, immune checkpoint inhibitor therapy is associated with a unique and wide spectrum of immune-related adverse events (irAEs), including neurologic events ranging from mild headache to potentially life-threatening encephalitis. Here, we summarize neurologic irAEs associated with nivolumab and ipilimumab melanoma treatment, present cases of treatment-related encephalitis, and provide practical guidance on diagnosis and management...
May 11, 2017: Oncologist
https://www.readbyqxmd.com/read/28495800/mechanically-patterned-neuromuscular-junctions-in-a-dish-have-improved-functional-maturation
#15
Cassandra L Happe, Kevin P Tenerelli, Anastasia K Gromova, Frederic Kolb, Adam J Engler
Motor neuron (MN) diseases are progressive disorders resulting from degeneration of neuromuscular junctions (NMJs), which form the connection between MNs and muscle fibers. NMJ-in-a-dish models have been developed to examine human MN-associated dysfunction with disease; however such co-culture models have randomly oriented myotubes with immature synapses that contract asynchronously. Mechanically patterned (MP) extracellular matrix with alternating soft and stiff stripes improve current NMJ-in-a-dish models by inducing both mouse and human myoblast durotaxis to stripes where they aligned, differentiated, and fused into patterned myotubes...
May 11, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28494877/prevalence-of-malignant-hyperthermia-diagnosis-in-hospital-discharge-records-in-california-florida-new-york-and-wisconsin
#16
Zhen Lu, Henry Rosenberg, Guohua Li
STUDY OBJECTIVE: Malignant hyperthermia (MH) is a rare yet potentially fatal pharmacogenetic disorder triggered by exposure to inhalational anesthetics and the depolarizing neuromuscular blocking agent succinylcholine. Epidemiologic data on the geographic variation in MH prevalence is scant. The objective of this study is to examine the prevalence of recorded MH diagnosis in patients discharged from hospitals in four states in the United States. DESIGN: Observational study...
June 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28490364/sporadic-late-onset-nemaline-myopathy-clinico-pathological-characteristics-and-review-of-76-cases
#17
REVIEW
Lukas J Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A Petersen, Thomas Tousseyn, Dietmar R Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y Van den Bergh, Jörg B Schulz, Joachim Weis, Kristl G Claeys
BACKGROUND: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. METHODS: We studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 new patients and 66 cases derived from a literature meta-analysis (PubMed, 1966-2016), and compared these with 15 reported HIV-associated nemaline myopathy (HIV-NM) cases...
May 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28484930/heart-shaped-bilateral-medullary-pyramidal-infarction-as-a-pathognomonic-finding-of-anterior-spinal-artery-occlusion
#18
Sammy Searcy, Oluwaseun O Akinduro, Andrew Spector, Jang W Yoon, Benjamin L Brown, William D Freeman
BACKGROUND: Unilateral anterior spinal artery (ASA) occlusion resulting in bilateral medullary pyramidal (BMP) infarction is a rare and devastating stroke subtype. We present two cases highlighting the diagnostic and clinical challenges of BMP infarction. METHODS: Case reports and literature review. RESULTS: A 57-year-old man rapidly had severe vomiting and diarrhea 2 h after a meal. Examination revealed bulbar weakness and areflexic tetraplegia...
May 8, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28484823/-prolonged-weaning-during-early-neurological-and-neurosurgical-rehabilitation-s2k-guideline-published-by-the-weaning-committee-of-the-german-neurorehabilitation-society-dgnr
#19
REVIEW
J D Rollnik, J Adolphsen, J Bauer, M Bertram, J Brocke, C Dohmen, E Donauer, M Hartwich, M D Heidler, V Huge, S Klarmann, S Lorenzl, M Lück, M Mertl-Rötzer, T Mokrusch, D A Nowak, T Platz, L Riechmann, F Schlachetzki, A von Helden, C W Wallesch, D Zergiebel, M Pohl
Prolonged weaning of patients with neurological or neurosurgery disorders is associated with specific characteristics, which are taken into account by the German Society for Neurorehabilitation (DGNR) in its own guideline. The current S2k guideline of the German Society for Pneumology and Respiratory Medicine is referred to explicitly with regard to definitions (e.g., weaning and weaning failure), weaning categories, pathophysiology of weaning failure, and general weaning strategies. In early neurological and neurosurgery rehabilitation, patients with central of respiratory regulation disturbances (e...
May 8, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28484315/hard-ways-towards-adulthood-the-transition-phase-in-young-people-with-myotonic-dystrophy
#20
REVIEW
Sigrid Baldanzi, Giulia Ricci, Costanza Simoncini, Mirna Cosci O Di Coscio, Gabriele Siciliano
Myotonic dystrophy type 1 (DM1), also called Steinert's disease, is a genetic multisystem disorder that has raised, in the last years, high interest because of the high variable clinical spectrum and related disability. Children with myotonic dystrophy are affected by behavioural problems and intellectual disability, finally impacting on their degree of engagement in family, work and social activities. The transition phase, representing the process of moving from adolescence to adulthood, can be severely affected by growing up with a neuromuscular disorder, with significant impact on patient's and families' quality of life...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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