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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/29033277/corrigendum-to-22nd-international-congress-of-the-world-muscle-society-saint-malo-france-3rd-7th-october-2017-neuromuscular-disorders-27s2-2017-s51-s270
#1
J Rendu, C Bosson, N Roux-Buisson, A Chatagnon, B Bankole, F Rivier, J Durigneux, S Monges, T Stojkovic, N Romero, I Marty, J Fauré
No abstract text is available yet for this article.
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29033278/different-profiles-of-upper-limb-function-in-four-types-of-neuromuscular-disorders
#2
Arjen Bergsma, Mariska M H P Janssen, Alexander C H Geurts, Edith H C Cup, Imelda J M de Groot
The aim of this research was to study impairments, activity limitations and participation restrictions due to upper limb involvement in people with four different types of neuromuscular disorders (NMD) - FacioScapuloHumeral Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) - and to investigate whether common or different profiles could be identified. Total of 267 respondents with NMD from the Netherlands answered a set of questionnaires covering upper limb impairments (pain and stiffness), activity limitations and participation restrictions...
September 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29032928/clinical-heterogeneity-in-andersen-tawil-syndrome
#3
LETTER
Armando Totomoch-Serra, Manlio F Márquez, David E Cervantes-Barragan
No abstract text is available yet for this article.
September 14, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28927828/fatty-acid-oxidation-defects-presenting-as-primary-myopathy-and-prominent-dropped-head-syndrome
#4
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Rita Christopher, Narayanappa Gayathri, Archana Natarajan, Mahadevappa Manjunath, Saraswati Nashi, Chandrajit Prasad, Atchayaram Nalini
Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here...
August 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29029879/reduced-renal-function-in-patients-with-myotonic-dystrophy-type-1-and-the-association-to-ctg-expansion-and-other-potential-risk-factors-for-chronic-kidney-disease
#5
Annika Aldenbratt, Christopher Lindberg, Maria K Svensson
Myotonic dystrophy type 1 (DM1) affects several organs. Disease severity and age at onset are correlated to the CTG repeat expansion. The aim of this study was to assess renal function and the association to numbers of CTG repeat expansion in patients with DM1. Ninety-eight patients with DM1 were included. Glomerular filtration rate (measured GFR) was measured using iohexol clearance. Data on CTG repeats were available in 83/98 (85%) patients. The overall mGFR was 74 (16) ml/min/1.73 m(2) (range 38-134). Sixty-four patients (69%) had a mild and sixteen patients (17%) a moderate decrease in renal function (mGFR 60-89 and 30-59 ml/min/1...
August 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28927829/230th-enmc-international-workshop-improving-future-assessment-and-research-in-igm-anti-mag-peripheral-neuropathy-a-consensus-collaborative-effort-naarden-the-netherlands-24-26-february-2017
#6
Mariëlle H J Pruppers, Ingemar S J Merkies, Michael P T Lunn, Nicolette C Notermans
No abstract text is available yet for this article.
August 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28847448/a-novel-mutation-in-fgd4-causes-charcot-marie-tooth-disease-type-4h-with-cranial-nerve-involvement
#7
Daisuke Kondo, Koji Shinoda, Ken-Ichiro Yamashita, Ryo Yamasaki, Akihiro Hashiguchi, Hiroshi Takashima, Jun-Ichi Kira
Charcot-Marie-Tooth disease type 4H (CMT4H) is a rare variant of autosomal recessive hereditary neuropathy. It is caused by FGD4 mutations and characterized by early infantile onset, slowly progressive distal muscle weakness, scoliosis, and myelin outfoldings visible in nerve biopsy samples. Here, we report a 65-year-old male born to consanguineous parents, who carries a novel homozygous FGD4 c.724C>T nonsense mutation. He developed lower limb weakness in his teens, which progressed slowly and was accompanied by diplopia, bilateral hearing loss, and erectile dysfunction from his twenties...
July 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28739181/delayed-onset-of-ambulation-in-boys-with-duchenne-muscular-dystrophy-potential-use-as-an-endpoint-in-clinical-trials
#8
Jacob J Gissy, Teresa Johnson, Deborah J Fox, Anil Kumar, Emma Ciafaloni, Anthonie J van Essen, Holly L Peay, Ann Martin, Ann Lucas, Richard S Finkel
Individuals with Duchenne muscular dystrophy (DMD) often exhibit delayed motor and cognitive development, including delayed onset of ambulation. Data on age when loss of independent ambulation occurs are well established for DMD; however, age at onset of walking has not been well described. We hypothesize that an effective medication given in early infancy would advance the age when walking is achieved so that it is closer to age-matched norms, and that this discrete event could serve as the primary outcome measure in a clinical trial...
October 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28688748/congenital-muscular-dystrophies-in-the-uk-population-clinical-and-molecular-spectrum-of-a-large-cohort-diagnosed-over-a-12-year-period
#9
Maria Sframeli, Anna Sarkozy, Marta Bertoli, Guja Astrea, Judith Hudson, Mariacristina Scoto, Rachael Mein, Michael Yau, Rahul Phadke, Lucy Feng, Caroline Sewry, Adeline Ngoh Seow Fen, Cheryl Longman, Gary McCullagh, Volker Straub, Stephanie Robb, Adnan Manzur, Kate Bushby, Francesco Muntoni
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive report of the relative frequency and clinical and genetic spectrum of CMD in the UK. Genetic analysis of CMD genes in the UK is centralised in London and Newcastle. Between 2001 and 2013, a genetically confirmed diagnosis of CMD was obtained for 249 unrelated individuals referred to these services...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28687435/evaluation-of-coexisting-polymyositis-in-feline-myasthenia-gravis-a-case-series
#10
Vincent Mayousse, Aurélien Jeandel, Nicolas Blanchard-Gutton, Catherine Escriou, Kirsten Gnirs, G Diane Shelton, Stéphane Blot
Acquired myasthenia gravis (MG) is relatively uncommon in cats. In humans, MG may be associated with other immune-mediated disorders, in particular polymyositis (PM). In this study, we described in-depth electrodiagnostic findings and pathological changes in muscles of cats diagnosed with MG, and assessed the presence of concurrent PM. Six cats with confirmed acetylcholine receptor antibody seropositive MG, and two suspected cases with clinical signs and electrophysiological changes consistent with MG, were reviewed...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28673557/long-term-follow-up-of-motor-function-and-muscle-strength-in-the-congenital-and-childhood-forms-of-myotonic-dystrophy-type-1
#11
Anna-Karin Kroksmark, Marie-Louise Stridh, Anne-Berit Ekström
The aims of this study were to explore how motor function and muscle strength change over time in the congenital and childhood forms of myotonic dystrophy type 1, further to investigate whether sex, age, disease severity or size of the mutation could explain these changes. Motor function and isometric muscle strength were evaluated at three occasions during 1999-2013 in 57 patients aged 0.7-28.9 years. Median time between first and last assessment was 11.5 years ranging from 9.6 to 13.3 years. The study shows that motor function improves during the first decade, is most pronounced during the first six years, reaches a plateau during adolescence and starts to deteriorate in the beginning of the second decade...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28673556/exome-sequencing-identifies-targets-in-the-treatment-resistant-ophthalmoplegic-subphenotype-of-myasthenia-gravis
#12
Melissa Nel, Mahjoubeh Jalali Sefid Dashti, Junaid Gamieldien, Jeannine M Heckmann
Treatment-resistant ophthalmoplegia (OP-MG) is not uncommon in individuals with African genetic ancestry and myasthenia gravis (MG). To identify OP-MG susceptibility genes, extended whole exome sequencing was performed using extreme phenotype sampling (11 OP-MG vs 4 control-MG) all with acetylcholine receptor-antibody positive MG. This approach identified 356 variants that were twice as frequent in OP-MG compared to control-MG individuals. After performing probability test estimates and filtering variants according to those 'suggestive' of association with OP-MG (p < 0...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28673555/brain-involvement-in-charcot-marie-tooth-disease-due-to-ganglioside-induced-differentiation-associated-protein-1-mutation
#13
Fouad Al-Ghamdi, Irina Anselm, Edward Yang, Partha S Ghosh
Charcot-Marie-Tooth (CMT) due to ganglioside-induced differentiation associated-protein 1 (GDAP1) gene mutation can be inherited as an autosomal recessive (severe phenotype) or dominant (milder phenotype) disorder. GDAP1 protein, located in the outer mitochondrial membrane, is involved in the mitochondrial fission. Brain imaging abnormalities have not been reported in this condition. We described an 8-year-old boy who had an early onset autosomal recessive neuropathy. Whole exome sequencing revealed compound heterozygous mutations in the GDAP1 gene: c...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28666572/rare-diagnosis-of-telethoninopathy-lgmd2g-in-a-turkish-patient
#14
Elena Ikenberg, Ivan Karin, Birgit Ertl-Wagner, Angela Abicht, Stefanie Bulst, Krause Sabine, Benedikt Schoser, Peter Reilich, Maggie C Walter
Telethoninopathy is one of the rarest forms of Limb-girdle muscular dystrophy (LGMD). So far, only a small number of LGMD type 2 G (LGMD2G) patients have been described, mostly patients from Brazil. Here we present a 35-year-old female patient of Turkish ethnicity with LGMD2G due to a novel homozygous frame-shift mutation c.90_91del (p.Ser31Hisfs*11) in the telethonin gene, probably leading to truncated protein or nonsense mediated decay. Myalgia and walking on tiptoes were the first symptoms starting in early childhood, around age 22 proximal, later distal leg muscles became affected...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28629675/misdiagnosis-is-an-important-factor-for-diagnostic-delay-in-mcardle-disease
#15
Renata Siciliani Scalco, Jasper M Morrow, Suzanne Booth, Sherryl Chatfield, Richard Godfrey, Ros Quinlivan
Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. The results demonstrated a high frequency of misdiagnosis (90%, n = 45/50) most commonly during childhood years (67%; n = 30/45) compared with teenage years and adulthood (teenage: n = 7/45; adult n = 5/45; not known n = 3/45)...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28629674/cystinosis-distal-myopathy-novel-clinical-pathological-and-genetic-features
#16
Macarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G Laing, Conrad C Weihl, Phillipa J Lamont
Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624464/complex-phenotypes-associated-with-stim1-mutations-in-both-coiled-coil-and-ef-hand-domains
#17
Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624463/insights-from-genotype-phenotype-correlations-by-novel-speg-mutations-causing-centronuclear-myopathy
#18
Haicui Wang, Claudia Castiglioni, Ayşe Kaçar Bayram, Fabiana Fattori, Serdar Pekuz, Diego Araneda, Hüseyin Per, Ricardo Erazo, Hakan Gümüş, Suzan Zorludemir, Kerstin Becker, Ximena Ortega, Jorge Alfredo Bevilacqua, Enrico Bertini, Sebahattin Cirak
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance in muscle biopsy. Myotubular myopathy, the X-linked form of CNM caused by mutations in the phosphoinositide phosphatase MTM1, is histologically characteristic since muscle fibres resemble myotubes. Here we present two unrelated patients with CNM and typical myotubular fibres in the muscle biopsy caused by mutations in striated muscle preferentially expressed protein kinase (SPEG)...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28622964/grand-paternal-inheritance-of-x-linked-myotubular-myopathy-due-to-mosaicism-and-identification-of-necklace-fibers-in-an-asymptomatic-male
#19
Carola Hedberg-Oldfors, Kittichate Visuttijai, Alexandra Topa, Mar Tulinius, Anders Oldfors
X-linked recessive myotubular myopathy (XLMTM) is a disorder associated with mutations in the myotubularin gene (MTM1) that usually affects boys, with transmission of the mutated allele from the mother. Here we describe a family with unexpected grand paternal transmission of a novel mutation in MTM1 (c.646_648dupGTT; p.Val216dup) identified in a severely affected infant boy with a centronuclear myopathy. We confirmed the carrier status of the mother, but surprisingly we found that her father was a carrier of the mutated MTM1 gene together with wild-type MTM1...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28601553/skeletal-muscle-water-t2-as-a-biomarker-of-disease-status-and-exercise-effects-in-patients-with-duchenne-muscular-dystrophy
#20
Ami Mankodi, Noura Azzabou, Thomas Bulea, Harmen Reyngoudt, Hirity Shimellis, Yupeng Ren, Eunhee Kim, Kenneth H Fischbeck, Pierre G Carlier
The purpose of this study was to examine exercise effects on muscle water T2 in patients with Duchenne muscular dystrophy (DMD). In 12 DMD subjects and 19 controls, lower leg muscle fat (%) was measured by Dixon and muscle water T2 and R2 (1/T2) by the tri-exponential model. Muscle water R2 was measured again at 3 hours after an ankle dorsiflexion exercise. The muscle fat fraction was higher in DMD participants than in controls (p < .001) except in the tibialis posterior muscle. Muscle water T2 was measured independent of the degree of fatty degeneration in DMD muscle...
August 2017: Neuromuscular Disorders: NMD
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