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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/29203355/a-randomized-placebo-controlled-phase-3-trial-of-an-antisense-oligonucleotide-drisapersen-in-duchenne-muscular-dystrophy
#1
Nathalie Goemans, Eugenio Mercuri, Elena Belousova, Hirofumi Komaki, Alberto Dubrovsky, Craig M McDonald, John E Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X Wang, Craig Campbell
This 48-week, randomized, placebo-controlled phase 3 study (DMD114044; NCT01254019) evaluated efficacy and safety of subcutaneous drisapersen 6 mg/kg/week in 186 ambulant boys aged ≥5 years, with Duchenne muscular dystrophy (DMD) resulting from an exon 51 skipping amenable mutation. Drisapersen was generally well tolerated, with injection-site reactions and renal events as most commonly reported adverse events. A nonsignificant treatment difference (P = 0.415) in the change from baseline in six-minute walk distance (6MWD; primary efficacy endpoint) of 10...
December 1, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29174526/timed-function-tests-motor-function-measure-and-quantitative-thigh-muscle-mri-in-ambulant-children-with-duchenne-muscular-dystrophy-a-cross-sectional-analysis
#2
Simone Schmidt, Patricia Hafner, Andrea Klein, Daniela Rubino-Nacht, Vanya Gocheva, Jonas Schroeder, Arjith Naduvilekoot Devasia, Stephanie Zuesli, Guenther Bernert, Vincent Laugel, Clemens Bloetzer, Maja Steinlin, Andrea Capone, Monika Gloor, Patrick Tobler, Tanja Haas, Oliver Bieri, Thomas Zumbrunn, Dirk Fischer, Ulrike Bonati
The development of new therapeutic agents for the treatment of Duchenne muscular dystrophy has put a focus on defining outcome measures most sensitive to capture treatment effects. This cross-sectional analysis investigates the relation between validated clinical assessments such as the 6-minute walk test, motor function measure and quantitative muscle MRI of thigh muscles in ambulant Duchenne muscular dystrophy patients, aged 6.5 to 10.8 years (mean 8.2, SD 1.1). Quantitative muscle MRI included the mean fat fraction using a 2-point Dixon technique, and transverse relaxation time (T2) measurements...
November 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29174468/identification-and-characterization-of-the-novel-m-8305c-t-mttk-and-m-4440g-a-mttm-gene-mutations-causing-mitochondrial-myopathies
#3
Mauro Scarpelli, Lidia Carreño-Gago, Anna Russignan, Noemi de Luna, Clara Carnicer-Cáceres, Alessandra Ariatti, Lorenzo Verriello, Grazia Devigili, Paola Tonin, Elena Garcia-Arumi, Tomàs Pinós
We report on two novel mtDNA mutations in patients affected with mitochondrial myopathy. The first patient, a 44-year-old woman, had bilateral eyelid ptosis and the m.8305C>T mutation in the MTTK gene. The second patient, a 56-year-old man, had four-limb muscle weakness and the MTTM gene m.4440G>A mutation. Muscle biopsies in both patients showed ragged red fibers and numerous COX-negative fibers as well as a combined defect of complex I, III and IV activities. The two mutations were heteroplasmic and detected only in muscle tissue, with a higher mutation load in COX-negative fibers...
October 31, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29203356/226th-enmc-international-workshop-towards-validated-and-qualified-biomarkers-for-therapy-development-for-duchenne-muscular-dystrophy-20-22-january-2017-heemskerk-the-netherlands
#4
Annemieke Aartsma-Rus, Alessandra Ferlini, Elizabeth M McNally, Pietro Spitali, H Lee Sweeney
No abstract text is available yet for this article.
October 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29221629/224th-enmc-international-workshop-clinico-sero-pathological-classification-of-immune-mediated-necrotizing-myopathies-zandvoort-the-netherlands-14-16-october-2016
#5
Yves Allenbach, Andrew L Mammen, Werner Stenzel, Olivier Benveniste
No abstract text is available yet for this article.
October 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29074295/corrigendum-to-rare-diagnosis-of-telethoninopathy-lgmd2g-in-a-turkish-patient-neuromuscular-disorders-27-2017-856-860
#6
Elena Ikenberg, Ivan Karin, Birgit Ertl-Wagner, Angela Abicht, Stefanie Bulst, Sabine Krause, Benedikt Schoser, Peter Reilich, Maggie C Walter
No abstract text is available yet for this article.
October 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29191368/a-novel-homozygous-nonsense-mutation-in-nefl-causes-autosomal-recessive-charcot-marie-tooth-disease
#7
Jun Fu, Yun Yuan
The neurofilament light polypeptide (NEFL) gene mutations cause mainly autosomal dominant Charcot-Marie-Tooth disease (CMT) and rarely the recessive forms of CMT. We describe a 13-year-old girl born of consanguineous parents. She presented an early onset of gait disturbance with weakness in lower extremities during the first decade. Nerve conduction velocity of median nerve was 24 m/s and amplitude of compound muscle action potential was 2.2 mV. Sensory nerve action potential was not recordable. Sural nerve biopsy showed severe loss of the large myelinated fibers...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29128256/megf10-related-myopathies-a-new-case-with-adult-onset-disease-with-prominent-respiratory-failure-and-review-of-reported-phenotypes
#8
Elizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, Rita Barresi, Tuomo Polvikovski, Geraldine Bailey, Richard Charlton, James Tellez, Daniel MacArthur, Michela Guglieri, Hanns Lochmüller, Kate Bushby, Volker Straub
Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and Dysphagia, and a milder form with cores in the muscle biopsy; and a possible genotype-phenotype correlation determining the clinical presentation has been suggested. We undertook exome sequencing in a 66 year old male with a 20 year history of progressive proximal and distal weakness of upper and lower limbs, facial weakness and dysphagia, who developed respiratory failure requiring ventilation while still ambulant in his 50s...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29174525/clinical-phenotypes-and-trajectories-of-disease-progression-in-type-1-spinal-muscular-atrophy
#9
Roberto De Sanctis, Marika Pane, Giorgia Coratti, Concetta Palermo, Daniela Leone, Maria Carmela Pera, Emanuela Abiusi, Stefania Fiori, Nicola Forcina, Lavinia Fanelli, Simona Lucibello, Elena S Mazzone, Francesco Danilo Tiziano, Eugenio Mercuri
The advent of clinical trials has highlighted the need for natural history studies reporting disease progression in type 1 spinal muscular atrophy. The aim of this study was to assess functional changes using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scale in a cohort of type 1 infants. Nutritional and respiratory longitudinal data were also recorded. Patients were classified according to the severity of the phenotype and age of onset. SMN2 copies were also assessed...
October 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29198466/exertional-myalgia-contractures-and-annular-erythema-in-a-patient-with-muscle-lactate-dehydrogenase-ldh-deficiency
#10
Dongyue Yue, Wenhua Zhu, Chongbo Zhao
No abstract text is available yet for this article.
October 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29169928/early-involvement-of-the-supinator-muscle-in-duchenne-muscular-dystrophy
#11
Tommaso Tartaglione, Claudia Brogna, Lara Cristiano, Tommaso Verdolotti, Marika Pane, Luana Ficociello, Lavinia Fanelli, Cesare Colosimo, Eugenio Mercuri
No abstract text is available yet for this article.
October 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29195749/acute-colonic-distension-in-a-patient-with-severe-muscular-dystrophy-receiving-non-invasive-positive-pressure-ventilation
#12
Andrea Vianello, Giovanna Arcaro, Piera Peditto, Silvia Iovino, Rosario Marchese-Ragona
No abstract text is available yet for this article.
September 29, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29169929/compound-heterozygous-ryr1-mutations-in-a-preterm-with-arthrogryposis-multiplex-congenita-and-prenatal-cns-bleeding
#13
Florian Brackmann, Matthias Türk, Nils Gratzki, Oliver Rompel, Heinz Jungbluth, Rolf Schröder, Regina Trollmann
RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have been reported in association with certain RYR1 mutations. Here we report a preterm infant born at 32 weeks gestation with arthrogryposis multiplex congenita due to compound heterozygous, previously MHS-associated RYR1 mutations, with additional signs of prenatal hemorrhage...
September 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29102430/involvement-of-pelvic-girdle-and-proximal-leg-muscles-in-early-oculopharyngeal-muscular-dystrophy
#14
B M van der Sluijs, S Lassche, G J Knuiman, B Kusters, A Heerschap, M Hopman, T H Schreuder, B G M van Engelen, N C Voermans
Although limb girdle weakness is not part of the major diagnostic criteria of oculopharyngeal muscular dystrophy (OPMD), it has frequently been observed in the Dutch and other OPMD cohorts. In the Dutch cohort, this might be related to the relatively old age or the severity of the genetic defect. This patient-control study (14 OPMD patients and 12 controls) investigated the involvement of limb girdle muscles with a multidimensional approach in early OPMD. We assessed functional abilities, disease impact, physical activity, muscle strength, histopathology and fatty infiltration using questionnaires, actometer, functional tests, manual and quantitative muscle testing, muscle biopsy and muscle MRI...
September 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29111379/a-scn4a-mutation-causing-paramyotonia-congenita
#15
Carmen Palma, Carmen Prior, Clara Gómez-González, Carlos Rodríguez-Antolin, Paloma Martínez-Montero, Lucía Pérez de Ayala, Samuel I Pascual, Jesús Molano Mateos
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345). It is estimated that more than 20% of patients with suspected myotonia congenita suffer paramyotonia congenita. The two related SCN4A phenotypes exhibit an autosomal dominant inheritance and are the result of mutations that cause an increase in the function of the protein coded by this gene...
September 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29132728/expanded-access-program-with-nusinersen-in-sma-type-i-in-italy-strengths-and-pitfalls-of-a-successful-experience
#16
EDITORIAL
Sonia Messina, Marika Pane, Valeria Sansone, Claudio Bruno, Michela Catteruccia, Giuseppe Vita, Concetta Palermo, Emilio Albamonte, Marina Pedemonte, Enrico Bertini, Luca Binetti, Eugenio Mercuri
No abstract text is available yet for this article.
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29102079/early-onset-facioscapulohumeral-dystrophy-a-systematic-review-using-individual-patient-data
#17
REVIEW
Rianne J M Goselink, Nicol C Voermans, Kees Okkersen, Oebele F Brouwer, George W Padberg, Ana Nikolic, Rossella Tupler, Malgorzata Dorobek, Jean K Mah, Baziel G M van Engelen, Tim H A Schreuder, Corrie E Erasmus
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age...
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29074294/221st-enmc-international-workshop-foot-surgery-in-charcot-marie-tooth-disease-june-10th-12th-2016-naarden-the-netherlands
#18
Mary M Reilly, Davide Pareyson, Joshua Burns, Matilde Laurá, Michael E Shy, Dishan Singh
No abstract text is available yet for this article.
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29054426/origin-of-the-myotonic-dystrophy-type-1-mutation-in-mexican-population-and-influence-of-amerindian-ancestry-on-ctg-repeat-allelic-distribution
#19
N M Murillo-Melo, L C Márquez-Quiróz, R Gómez, L Orozco, E Mendoza-Caamal, Y S Tapia-Guerrero, R Camacho-Mejorado, H Cortés, A López-Reyes, C Santana, G Noris, O Hernández-Hernández, B Cisneros, J J Magaña
Myotonic dystrophy type 1 is caused by expansion of a CTG trinucleotide repeat situated in the DMPK gene. Worldwide genetic studies suggest a single or limited number of mutational events cause the disease. However, distribution of CTG alleles and disease incidence varies among ethnicities. Due to the great ethnic diversity of the Mexican population, the present study was aimed at analyzing the impact of different lineages in shaping the CTG-repeat allelic distribution in the contemporary Mexican-Mestizo population as well as to shed light on the DM1 ancestral origin...
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29033278/different-profiles-of-upper-limb-function-in-four-types-of-neuromuscular-disorders
#20
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
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