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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/29754758/novel-valosin-containing-protein-mutations-associated-with-multisystem-proteinopathy
#1
Sejad Al-Tahan, Ebaa Al-Obeidi, Hiroshi Yoshioka, Anita Lakatos, Lan Weiss, Marjorie Grafe, Johanna Palmio, Matt Wicklund, Yadollah Harati, Molly Omizo, Bjarne Udd, Virginia Kimonis
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). We report the clinical, histological, and molecular findings in four new patients/families carrying novel VCP mutations: c.474 G > A (p.M158I); c.478 G > C (p...
April 17, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29724544/perivascular-hemosiderin-deposits-in-human-skeletal-muscle-tissue
#2
Claire Delbridge, Matthias Türk, Abbas Agaimy, Martin Winterholler, Rolf Schröder
No abstract text is available yet for this article.
April 16, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29759638/a-new-case-of-limb-girdle-muscular-dystrophy-2g-in-a-greek-patient-founder-effect-and-review-of-the-literature
#3
Roberta Brusa, Francesca Magri, Dimitra Papadimitriou, Alessandra Govoni, Roberto Del Bo, Patrizia Ciscato, Marco Savarese, Claudia Cinnante, Maggie C Walter, Angela Abicht, Stefanie Bulst, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Vincenzo Nigro, Giacomo Pietro Comi
Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities...
April 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29661643/muscle-ultrasound-elastography-and-mri-in-preschool-children-with-duchenne-muscular-dystrophy
#4
Anna Pichiecchio, Francesco Alessandrino, Chandra Bortolotto, Alessandra Cerica, Cristina Rosti, Maria Vittoria Raciti, Marta Rossi, Angela Berardinelli, Giovanni Baranello, Stefano Bastianello, Fabrizio Calliada
The aim of this study was to determine muscle tissue elasticity, measured with shear-wave elastography, in selected lower limb muscles of patients affected by Duchenne muscular dystrophy (DMD) and to correlate the values obtained with those recorded in healthy children and with muscle magnetic resonance imaging (MRI) data from the same DMD children, specifically the pattern on T1-weighted (w) and short-tau inversion recovery (STIR) sequences. Five preschool DMD children and five age-matched healthy children were studied with shear-wave elastography...
April 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29729827/association-of-mir-149-polymorphism-with-onset-age-and-severity-in-charcot-marie-tooth-disease-type-1a
#5
Soo Hyun Nam, Sumaira Kanwal, Da Eun Nam, Min Hee Lee, Tae Hoon Kang, Sung-Chul Jung, Byung-Ok Choi, Ki Wha Chung
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by 1.5-fold increased dosage of the PMP22; however, onset age and severity vary considerably among patients. The exact reason behind these phenotypic heterogeneities has rarely been discovered yet. Because miRNAs are the key regulators of gene expression, we speculated that variants of miRNAs might be the genetic modifiers for CMT1A. This study noticed a common single nucleotide polymorphism (n.86T > C, rs2292832) in the miR-149 which was predicted to target several CMT causing genes including PMP22...
April 11, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29759639/uniparental-disomy-unveils-a-novel-recessive-mutation-in-pomt2
#6
Brianna N Brun, Tobias Willer, Benjamin W Darbro, Hernan D Gonorazky, Sergey Naumenko, James J Dowling, Kevin P Campbell, Steven A Moore, Katherine D Mathews
Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N). We report a case of LGMD due to a novel mutation in POMT2 unmasked by uniparental isodisomy. The patient experienced proximal muscle weakness from three years of age with minimal progression. She developed progressive contractures and underwent unilateral Achilles tenotomy. By age 11, she had borderline low left ventricular ejection fraction and mild restrictive lung disease...
April 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29748118/diaphragmatic-dysfunction-as-the-presenting-symptom-in-neuromuscular-disorders-a-retrospective-longitudinal-study-of-etiology-and-outcome-in-30-german-patients
#7
Matthias Türk, Irina Weber, Gernot Vogt-Ladner, Rolf Schröder, Martin Winterholler
Diaphragmatic dysfunction is well-known in advanced stages of neuromuscular disorders. However, data on its presence as the presenting symptom in neuromuscular disorders is scarce. The goal of this retrospective longitudinal study was to evaluate the etiology and clinical outcome in patients, in whom uni- or bilateral diaphragmatic dysfunction was primarily diagnosed, before a specific neuromuscular disease was found. Patients with critical illness neuropathy/myopathy were excluded from this study. Analysis of the medical records of two tertiary referral centers for patients with neuromuscular diseases identified 30 corresponding patients with diaphragmatic dysfunction (17 unilateral; 13 bilateral)...
April 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29655529/233rd-enmc-international-workshop-clinical-trial-readiness-for-calpainopathies-naarden-the-netherlands-15-17-september-2017
#8
William Lostal, J Andoni Urtizberea, Isabelle Richard
No abstract text is available yet for this article.
March 28, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29776718/high-urinary-ferritin-reflects-myoglobin-iron-evacuation-in-dmd-patients
#9
Jérémy Rouillon, Thibaud Lefebvre, Jérôme Denard, Vincent Puy, Raed Daher, Jérôme Ausseil, Aleksandar Zocevic, Paul Fogel, Katell Peoc'h, Brenda Wong, Laurent Servais, Thomas Voit, Herve Puy, Zoubida Karim, Fedor Svinartchouk
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the dystrophin gene leading to the absence of the normal dystrophin protein. The efforts of many laboratories brought new treatments of DMD to the reality, but ongoing and forthcoming clinical trials suffer from absence of valuable biomarkers permitting to follow the outcome of the treatment day by day and to adjust the treatment if needed. In the present study the levels of 128 urinary proteins including growth factors, cytokines and chemokines were compared in urine of DMD patients and age related control subjects by antibody array approach...
March 20, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29699728/comprehensive-nutritional-and-metabolic-assessment-in-patients-with-spinal-muscular-atrophy-opportunity-for-an-individualized-approach
#10
Enid E Martinez, Nicolle Quinn, Kayla Arouchon, Rocco Anzaldi, Stacey Tarrant, Nina S Ma, John Griffin, Basil T Darras, Robert J Graham, Nilesh M Mehta
Optimal nutrition support is recommended for patients with spinal muscular atrophy (SMA). In a prospective study, we performed comprehensive nutritional assessments with the aim to guide best nutritional strategies for patients with SMA types II and III. We recorded a) anthropometry; b) macro- and micronutrient intakes; c) measured resting energy expenditure by indirect calorimetry; and d) body composition including dual X-ray absorptiometry. We enrolled a cohort of 21 patients aged 3 to 36 years of which 13 were female; 19 had SMA type II and 2 had SMA type III...
March 19, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29735270/a-zebrafish-model-for-fhl1-opathy-reveals-loss-of-function-effects-of-human-fhl1-mutations
#11
M Keßler, A Kieltsch, E Kayvanpour, H A Katus, B Schoser, J Schessl, S Just, W Rottbauer
Missense mutations in the four and a half LIM domain 1 (FHL1) gene were found to cause X-linked inherited myopathies of both skeletal and heart muscles. However, the mechanisms by which FHL1 mutations impact on FHL1 function and lead to alteration of muscle structure and function have not been deciphered yet. We generated here by Morpholino-modified antisense oligonucleotide-mediated gene knockdown fHL1-deficient zebrafish embryos. Similar to the human situation, fhl1a-morphants zebrafish displayed severe skeletal and heart muscle myopathy...
March 15, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29610000/critical-period-of-neuromuscular-development-importance-for-a-new-treatment-of-sma
#12
REVIEW
Gerta Vrbová, Urszula Sławińska
Findings from mice that had their Smn gene deleted and some copies of the human SMN2 gene introduced to produce SMN protein are summarized. Symptoms due to this manipulation can be corrected only by restoring the SMN protein expression in neurones and not in muscle. The changes in muscle and neuromuscular junction (NMJ) in these mutant mice are probably due to the malfunction of the neuronal component of the NMJ i.e. the nerve terminal. The reduction of transmitter release by nerve terminals in animals with reduced SMN protein supports this notion...
March 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29655528/a-mobile-app-for-patients-with-pompe-disease-and-its-possible-clinical-applications
#13
Giulia Ricci, Sigrid Baldanzi, Fabrizio Seidita, Chiara Proietti, Francesca Carlini, Silvia Peviani, Giovanni Antonini, Andrea Vianello, Gabriele Siciliano
In recent years, the potential of smart technology to provide innovative solutions for disease management has raised high expectations for patients' and healthcare professionals' community. We developed a mobile app, called AIGkit, specifically designed for adult patients with Pompe disease, with the aim to help them manage the burden of illness-related factors, and also to provide clinicians with continuous tracking of each patient in real-time and ambient conditions of everyday life. We present the AIGkit as an innovative approach exploiting cutting-edge technology to improve quality of care and research into neuromuscular disorders...
March 12, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29627324/from-excitation-to-intracellular-ca-2-movements-in-skeletal-muscle-basic-aspects-and-related-clinical-disorders
#14
REVIEW
Bruno Allard
In skeletal muscle fiber, excitation-contraction coupling corresponds to the sequence of events occurring from action potential firing to initiation of contraction by an increase in cytosolic Ca2+ . These events are elicited in response to excitation of the motor neuron which induces trains of action potentials in the muscle cell that spread along the sarcolemma and in depth along the T-tubule membrane. Depolarization of the T-tubule membrane induces a conformational change in a protein complex, called the dihydropyridine receptor, which opens a calcium channel anchored in the membrane of the sarcoplasmic reticulum, called the ryanodine receptor, in charge of release of Ca2+ ions that activate contractile proteins...
March 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29606556/prevalence-and-mutation-spectrum-of-skeletal-muscle-channelopathies-in-the-netherlands
#15
B C Stunnenberg, J Raaphorst, J C W Deenen, T P Links, A A Wilde, D J Verbove, E J Kamsteeg, A van den Wijngaard, C G Faber, G J van der Wilt, B G M van Engelen, G Drost, H B Ginjaar
Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. Minimum point prevalence rates were calculated as number of genetically-confirmed skeletal muscle channelopathy patients (CLCN1, SCN4A, CACNA1S and KCNJ2 gene mutations) in the Netherlands (1990-2015) divided by the total number of at-risk individuals. Rates were expressed as cases/100...
March 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29655530/lifetime-endogenous-estrogen-exposure-and-disease-severity-in-female-patients-with-facioscapulohumeral-muscular-dystrophy
#16
Karlien Mul, Corinne G C Horlings, Nicol C Voermans, Tim H A Schreuder, Baziel G M van Engelen
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by large variability in disease severity, that is only partly explained by (epi)genetic factors. Clinical observations and recent in vitro work suggest a protective effect of estrogens in FSHD. The aims of this study were to assess whether the lifetime endogenous estrogen exposure contributes to the variability in disease severity in female patients, and whether female patients experience changes in disease progression during periods of hormonal changes...
March 8, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29625835/a-myh3-mutation-identified-for-the-first-time-in-a-chinese-family-with-sheldon-hall-syndrome-da2b
#17
Yang Xu, Qing-Lin Kang, Zhen-Lin Zhang
Sheldon-Hall syndrome is the most common type of distal arthrogryposis syndromes, also known as distal arthrogryposis 2B (DA2B). Sheldon-Hall syndrome is caused by mutations in the TPM2, TNNI2, TNNT3 or MYH3 gene and characterized by ulnar deviation, camptodactyly, overlapping fingers and scoliosis from birth. We investigated a Chinese family with multiple members who clinically presented with distal arthrogryposis of the hands. In total, 261 subjects including one proband and ten family members from the non-consanguineous Chinese family and 250 healthy volunteers were included and had their genomic DNA extracted...
March 8, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29631954/low-dystrophin-levels-are-insufficient-to-normalize-the-neuromuscular-synaptic-abnormalities-of-mdx-mice
#18
Elizabeth M van der Pijl, Maaike van Putten, Erik H Niks, Jan J G M Verschuuren, Annemieke Aartsma-Rus, Jaap J Plomp
Dystrophin is a sub-sarcolemmal component of skeletal muscle fibres and is enriched at the postsynaptic membrane of the neuromuscular junction (NMJ). In the mdx mouse, dystrophin absence not only causes muscle damage but also mild synaptic dysfunctions and clear morphological aberrations at NMJs. In particular, reduction of postsynaptic sensitivity for the neurotransmitter acetylcholine and extra exhaustion of presynaptic acetylcholine release during intense synaptic activity exists. Current experimental therapeutic approaches in Duchenne muscular dystrophy aim to restore dystrophin expression...
March 6, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29605097/22nd-world-muscle-society-congress-saint-malo-2017-gulls-on-guard-through-ebb-and-flow-of-science-manifesting-extra-muscle
#19
EDITORIAL
Jane Miller
No abstract text is available yet for this article.
March 6, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29576327/parental-mosaicism-in-ryr1-related-central-core-disease
#20
S Marks, E van Ruitenbeek, P Fallon, P Johns, R Phadke, R Mein, S Mohammed, H Jungbluth
Myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene are amongst the most common non-dystrophic neuromuscular disorders and have been associated with both dominant and recessive inheritance. Several cases with apparently de novo dominant inheritance have been reported. Here we report two siblings with features of Central Core Disease (CCD) born to unaffected parents. Genetic testing revealed a heterozygous dominant RYR1 c.14582G>A (p. Arg4861His) mutation previously identified in other CCD pedigrees...
February 26, 2018: Neuromuscular Disorders: NMD
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