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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/30595407/skeletal-alterations-developmental-delay-and-new-mutations-in-juvenile-onset-pompe-disease
#1
José Guevara-Campos, Lucía González-Guevara, Omar Cauli
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e.g., hypertrophic cardiomyopathy and the diagnosis is often difficult because it can clinically resemble myriad other neuromuscular disorders...
December 4, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30578098/immunoglobulin-ig-g-4-related-myositis-a-new-entity
#2
Vincent Casteleyn, Helena Radbruch, Torsten Diekhoff, Thomas Rose, Lydia Spengler, Udo Schneider, Werner Stenzel
Immunoglobulin (Ig)G4-related disease is an uncommon systemic autoimmune disorder characterized by infiltration of IgG4+ plasma cells in different organs and elevated levels of IgG4 in peripheral blood. So far, only one case of myositis with abundant IgG4+ plasma cells has been reported and classified as 'polymyositis'. We present an unusual case of chronic inflammatory myopathy in a context of rheumatoid arthritis. Severe granulomatous myositis, featuring abundant IgG4+ plasma cells was identified in two skeletal muscle biopsies within a five-year-interval...
November 24, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30579751/idiopathic-inflammatory-myopathies-with-anti-mitochondrial-antibodies-clinical-features-and-treatment-outcomes-in-a-chinese-cohort
#3
Ying Hou, Meirong Liu, Yue-Bei Luo, Yuan Sun, Kai Shao, Tingjun Dai, Wei Li, Yuying Zhao, Chuanzhu Yan
Anti-mitochondrial antibodies, the hallmark of primary biliary cirrhosis, have been detected in many patients with idiopathic inflammatory myopathies and these anti-mitochondrial-antibody-associated idiopathic inflammatory myopathies frequently show unique characteristics. We detected anti-mitochondrial antibodies in Chinese idiopathic inflammatory myopathy and summarized the clinical findings of these anti-mitochondrial-antibody-positive patients. Of 136 patients, seven (5.15%) were found to be anti-mitochondrial-antibody-positive...
November 22, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30553701/autophagic-vacuolar-myopathy-caused-by-a-cln3-mutation-a-case-report
#4
Francesca Moro, Anna Rubegni, Francesca Pochiero, Serena Mero, Elena Procopio, Jacopo Baldacci, Maria A Donati, Filippo M Santorelli
We present a 29-year-old man with visual failure since childhood, muscle weakness, subtle heart muscle hypertrophy, and seizures who was initially considered to be affected by a mitochondrial encephalomyopathy because of the multiple unspecific involvement of brain, muscle and retinal tissues. Only the muscle biopsy findings correctly guided the genetic investigations and the identification of an autophagic vacuolar myopathy due to a homozygous mutation in CLN3. We believe that information in autophagic muscle disorders should further alert clinicians to consider CLN3 in individuals with vacuolar myopathy, especially if they have visual and cardiac involvement...
November 22, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30553702/late-onset-distal-myopathy-a-new-telethoninopathy
#5
Víctor Antonio Blanco-Palmero, Aurelio Hernández-Laín, David Uriarte-Pérez de Urabayen, Diana Cantero-Montenegro, Montse Olivé, Cristina Domínguez-González
No abstract text is available yet for this article.
November 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30578101/myopathies-featuring-non-caseating-granulomas-sarcoidosis-inclusion-body-myositis-and-an-unfolding-overlap
#6
Reem M Alhammad, Teerin Liewluck
Granulomatous myopathies are etiologically heterogeneous myopathies, pathologically characterized by the presence of intramuscular granulomas. Treatment outcomes are variable. We aimed to identify prognostic factors of treatment outcomes in myopathies featuring non-caseating granulomas. Sixteen patients were identified (9 sarcoid myopathy, 6 inclusion body myositis, and 1 granulomatous myopathy of indeterminate cause) over a 21-year period. The median age at diagnosis was 67 years in sarcoid myopathy group, and 64 years in inclusion body myositis group...
November 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30578099/functional-impairments-fatigue-and-quality-of-life-in-ryr1-related-myopathies-a-questionnaire-study
#7
E van Ruitenbeek, J A E Custers, C Verhaak, M Snoeck, C E Erasmus, E J Kamsteeg, M I Schouten, C Coleman, S Treves, B G Van Engelen, H Jungbluth, N C Voermans
Mutations in RYR1 are a common genetic cause of non-dystrophic neuromuscular disorders. To obtain baseline data concerning the prevalence of fatigue, the psychological disease burden and quality of life associated with these common conditions, we performed a questionnaire study. Seventy-two patients were included in this study, 33 with a congenital myopathy and 39 with malignant hyperthermia or exertional rhabdomyolysis. Our results showed that patients with RYR1-related myopathies have more functional impairments and significant chronic fatigue compared to healthy controls, with almost half of patients being severely fatigued...
November 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30578100/a-novel-nonsense-piezo2-mutation-in-a-family-with-scoliosis-and-proprioceptive-defect
#8
Marion Masingue, Julien Fauré, Guilhem Solé, Tanya Stojkovic, Sarah Léonard-Louis
PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. We report here two sisters presenting with these clinical and genetic features. They had a similar phenotype, with severe hypotonia and respiratory distress at birth, delayed acquisition of motor milestones and need of scoliosis surgery. Hypotonia and alteration of proprioception were at the forefront of clinical examination for both, along with areflexia, hyperlaxity, cutis laxa, and discrete facial dysmorphy...
November 8, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30598237/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-multicenter-retrospective-study
#9
Agnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, Véronique Manel, Sylviane Peudenier, Isabelle Desguerre, Susana Quijano-Roy, Catherine Vanhulle, Mélanie Fradin, Arnaud Isapof, Michaël Jokic, Michèle Mathieu-Dramard, Klaus Dieterich, Florence Petit, Corinne Magdelaine, Fabienne Giuliano, Domitille Gras, Damien Haye, Mathilde Nizon, Maryse Magen, Eric Bieth, Claude Cances
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. We thus conducted a national multicenter observational retrospective study to determine the prognosis of children with SMARD1 according to their phenotype. We recorded all known French pediatric cases with mutations identified on the immunoglobulin μ-binding protein 2 gene and the presence of respiratory symptoms...
October 31, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30559040/electromyography-and-muscle-biopsy-in-paediatric-neuromuscular-disorders-evaluation-of-current-practice-and-literature-review
#10
Patricia Hafner, Rahul Phadke, Adnan Manzur, Ralph Smith, Stephan Jaiser, Peter Schutz, Caroline Sewry, Francesco Muntoni, Matthew Pitt
The conduct and interpretation of electromyography in children is considered difficult and therefore often avoided. We assessed the diagnostic accuracy of the paediatric electromyography protocol used in our tertiary reference centre and compared it to muscle biopsy results and clinical diagnosis. Electromyography was performed in unsedated children with suspected neuromuscular diseases between January 2010 and September 2017 and was analysed quantitatively. Muscle pathology was classified into seven groups based on existing histopathology reports...
October 31, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30553700/the-oral-splicing-modifier-rg7800-increases-full-length-survival-of-motor-neuron-2-mrna-and-survival-of-motor-neuron-protein-results-from-trials-in-healthy-adults-and-patients-with-spinal-muscular-atrophy
#11
Heidemarie Kletzl, Anne Marquet, Andreas Günther, Wakana Tang, Jules Heuberger, Geert Jan Groeneveld, Willem Birkhoff, Eugenio Mercuri, Hanns Lochmüller, Claire Wood, Dirk Fischer, Irene Gerlach, Katja Heinig, Teodorica Bugawan, Sebastian Dziadek, Russell Kinch, Christian Czech, Omar Khwaja
Spinal muscular atrophy (SMA) is a rare genetic and progressively debilitating neuromuscular disease. It is the leading genetic cause of death among infants. In SMA, low levels of survival of motor neuron (SMN) protein lead to motor neuron death and muscle atrophy as the SMN protein is critical to motor neuron survival. SMA is caused by mutations in, or deletion of, the SMN1 gene. A second SMN gene, SMN2, produces only low levels of functional SMN protein due to alternative splicing which excludes exon 7 from most transcripts, generating truncated, rapidly degraded SMN protein...
October 30, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30472062/the-2019-version-of-the-gene-table-of-neuromuscular-disorders-nuclear-genome
#12
Gisèle Bonne, François Rivier, Dalil Hamroun
No abstract text is available yet for this article.
December 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30352768/role-of-neuronal-nitric-oxide-synthase-nnos-in-duchenne-and-becker-muscular-dystrophies-still-a-possible-treatment-modality
#13
REVIEW
Nanna W Dombernowsky, Joakim N E Ölmestig, Nanna Witting, Christina Kruuse
Neuronal nitric oxide synthase (nNOS) is involved in nitric oxide (NO) production and suggested to play a crucial role in blood flow regulation of skeletal muscle. During activation of the muscle, NO helps attenuate the sympathetic vasoconstriction to accommodate increased metabolic demands, a phenomenon known as functional sympatholysis. In inherited myopathies such as the dystrophinopathies Duchenne and Becker muscle dystrophies (DMD and BMD), nNOS is lost from the sarcolemma. The loss of nNOS may cause functional ischemia contributing to skeletal and cardiac muscle cell injury...
November 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30342904/experiences-with-bariatric-surgery-in-patients-with-facioscapulohumeral-dystrophy-and-myotonic-dystrophy-type-1-a-qualitative-study
#14
Esther E D H Abel, Edith H C Cup, Anke Lanser, Wouter K G Leclercq, Joost Raaphorst, George W Padberg, Ton Satink, Nicol C Voermans
Overweight and obesity are common in patients with facioscapulohumeral dystrophy (FSHD) and myotonic dystrophy type 1 (DM1). Lifestyle change is often challenging for patients with neuromuscular diseases, especially to increase physical activity. When lifestyle changes have not been effective, bariatric surgery is a treatment option. However, very little is known about the benefits and risks in patients with neuromuscular disorders. This study therefore aims to obtain insight into the patients' perspectives and experiences, the outcome, effects and risks of bariatric surgery in these disorders...
November 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30336970/longitudinal-pulmonary-function-testing-outcome-measures-in-duchenne-muscular-dystrophy-long-term-natural-history-with-and-without-glucocorticoids
#15
Craig M McDonald, Heather Gordish-Dressman, Erik K Henricson, Tina Duong, Nanette C Joyce, Sanjay Jhawar, Mika Leinonen, Fengming Hsu, Anne M Connolly, Avital Cnaan, Richard T Abresch
We describe changes in pulmonary function measures across time in Duchenne muscular dystrophy patients treated with glucocorticoids (GCs) > 1 year compared to GC naïve patients in the Cooperative International Research Group Duchenne Natural History Study, a multicenter prospective cohort study. 397 participants underwent 2799 pulmonary function assessments over a period up to 10 years. Fifty-three GC naïve participants (< 1 month exposure) were compared to 322 subjects with > 1 year cumulative GC treatment...
November 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30314719/enzyme-replacement-therapy-with-alglucosidase-alfa-in-a-late-onset-pompe-disease-patient-during-pregnancy
#16
Miguel Oliveira Santos, Teresinha Evangelista, Isabel Conceição
Clinical data regarding the use of enzyme replacement therapy (ERT) during pregnancy in late-onset Pompe disease (LOPD) is still scarce. We present the clinical case of a 32-year-old female patient with LOPD, on enzyme replacement therapy (ERT) since the age of 29 years old, who had treatment interrupted after her second week of pregnancy with subsequent deterioration of her muscle condition. ERT was resumed by week 20 with clear clinical improvement. The pregnancy and delivery was otherwise uneventful and there were no problems during the neonatal period...
November 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30286978/characterization-of-australian-labradoodle-dystrophinopathy
#17
Stephanie M Shrader, SeungWoo Jung, Thomas S Denney, Bruce F Smith
In humans, dystrophin mutations cause the X-linked recessive disorder known as Duchenne muscular dystrophy (DMD). These mutations result in skeletal and cardiac muscle damage with mortality increasingly associated with cardiomyopathy. We have identified a novel dystrophin mutation in exon 21 in a line of Australian Labradoodles; affected dogs develop progressive clinical signs including poor weight gain and weight loss, gait abnormalities, exercise intolerance, skeletal muscle atrophy, macroglossa, ptyalism, dysphagia, kyphosis, and a plantigrade stance...
November 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30270126/validation-of-the-nine-hole-peg-test-as-a-measure-of-dexterity-in-myotonic-dystrophy-type-1
#18
Claudia Cutellè, Emanuele Rastelli, Manuela Gibellini, Giulia Greco, Erica Frezza, Annalisa Botta, Chiara Terracciano, Roberto Massa
We aimed to validate the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1 (DM1). Fifty patients with adult-onset, genetically confirmed DM1 were evaluated by Nine Hole Peg Test and re-evaluated at one week. Myotonia was not a limiting factor. The first test was compared with that performed by normal subjects (n = 28). Contextually, patients underwent handgrip and three-finger pinch assessments by handheld dynamometer. The Nine Hole Peg Test showed high intra-rater and inter-rater reliability in DM1 [ICC 0...
November 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30266223/clinical-variability-of-early-onset-congenital-myasthenic-syndrome-due-to-biallelic-rapsn-mutations-in-brazil
#19
Eduardo de Paula Estephan, Antonio Alberto Zambon, Paulo Eurípedes Marchiori, André Macedo Serafim da Silva, Vitor Marques Caldas, Cristiane Araújo Martins Moreno, Umbertina Conti Reed, Rita Horvath, Ana Töpf, Hanns Lochmüller, Edmar Zanoteli
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS), leading to endplate acetylcholine receptor deficiency. We present three RAPSN early-onset CMS patients (from a Brazilian cohort of 61 CMS patients). Patient 1 and patient 2 harbor the mutation p.N88K in homozygosity, while patient 3 harbors p.N88K in compound heterozygosity with another pathogenic variant (p.V165M; c.493G ≥ A). At onset, patient 3 presented with more severe symptoms compared to the other two, showing generalized weakness and repeated episodes of respiratory failure in the first years of life...
November 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30266222/breathe-duchenne-what-natural-history-studies-tell-us-about-the-progression-of-pulmonary-morbidity-in-duchenne-muscular-dystrophy
#20
EDITORIAL
Oscar H Mayer, Andrea Aliverti, Thomas Meier
No abstract text is available yet for this article.
November 2018: Neuromuscular Disorders: NMD
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