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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/28189480/corrigendum-to-response-to-mitochondrial-neuropathy-affects-peripheral-and-cranial-nerves-and-is-primary-or-secondary-or-both-neuromuscular-disorders-26-8-2016-549
#1
Mancuso Michelangelo, Orsucci Daniele, Angelini Corrado, Bertini Enrico, Bruno Claudio, Carelli Valerio, Giacomo P Comi, Filosto Massimiliano, Lamperti Costanza, Moggio Maurizio, Mongini Tiziana, Moroni Isabella, Tonin Paola, Toscano Antonio, Siciliano Gabriele
No abstract text is available yet for this article.
February 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28215761/fist-sign-in-inclusion-body-myositis
#2
Zen Kobayashi, Emi Fukatsu, Sakiko Itaya, Miho Akaza, Kiyobumi Ota, Yoshiyuki Numasawa, Satoru Ishibashi, Hiroyuki Tomimitsu, Shuzo Shintani
No abstract text is available yet for this article.
January 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28190647/human-growth-hormone-stabilizes-walking-and-improves-strength-in-a-patient-with-dominantly-inherited-calpainopathy
#3
Kira Philipsen Prahm, Ulla Feldt-Rasmussen, John Vissing
The aim was to investigate if daily low-dose treatment with recombinant human growth hormone (somatropine) can stabilize or improve muscle strength and walking capability in a patient with dominantly inherited calpainopathy. The patient was treated with daily injections of somatropine, except for a 6-month pause, over a period of 4.5 years. Efficacy was assessed by repeated muscle dynamometry tests and 6-minute walk tests (6MWT). Strength improved in most muscle groups on treatment, deteriorated in the 6-month off treatment, and improved again when treatment was resumed...
January 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28215594/adult-onset-satoyoshi-syndrome-in-a-young-male
#4
Vinícius Viana Abreu Montanaro, Thiago Falcão Hora, Christian Marques Couto, Flavio Diniz Ribas
Satoyoshi syndrome is a rare condition of presumed autoimmune etiology that is characterized by intermittent painful spasms, diarrhea, hair loss, and bone abnormalities. We report the first case of adult onset Satoyoshi syndrome in South America. A 32-year-old Caucasian male presented with sudden involuntary muscle contractions and painful cramps that had started at the age of 21. He also presented with trismus and complete loss of body hair. Electroneuromyography showed abnormal spontaneous activity. Diagnosis of Satoyoshi syndrome was made after extensive investigation; improvement was achieved with corticosteroids and azathioprine...
January 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28190645/pgm1-deficiency-substrate-use-during-exercise-and-effect-of-treatment-with-galactose
#5
N C Voermans, N Preisler, K L Madsen, M C H Janssen, B Kusters, N Abu Bakar, F Conte, V M L Lamberti, F Nusman, B G van Engelen, M van Scherpenzeel, J Vissing, D J Lefeber
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise...
January 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214267/a-japanese-male-with-a-novel-ano5-mutation-with-minimal-muscle-weakness-and-muscle-pain-till-his-late-fifties
#6
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, Yutaka Honma, Kazunari Momma, Kana Yatabe, Takuhisa Tamura, Kenichi Kaida, Naomasa Miyata, Ichizo Nishino, Ikuya Nonaka, Mitsuru Kawai
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28215760/two-novel-cases-of-compound-heterozygous-mutations-in-mitofusin2-finding-out-the-inheritance
#7
Alessandro Geroldi, Patrizia Lastella, Margherita Patruno, Fabio Gotta, Nicoletta Resta, Grazia Devigili, Carlo Sabbà, Rossella Gulli, Merit Lamp, Paola Origone, Paola Mandich, Emilia Bellone
MFN2 is the major gene involved in the axonal form of Charcot-Marie-Tooth disease. It usually has an autosomal dominant pattern of inheritance, but a few cases of homozygous or compound heterozygous mutations have been described. These patients usually present an earlier onset, more severe phenotype and their inheritance pattern can span from autosomal recessive to semidominant. Here we report two unrelated patients carrying two compound heterozygous MFN2 mutations. Both present a pure axonal neuropathy without any additional features...
January 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214268/219th-enmc-international-workshop-titinopathies-international-database-of-titin-mutations-and-phenotypes-heemskerk-the-netherlands-29-april-1-may-2016
#8
Peter Hackman, Bjarne Udd, Carsten G Bönnemann, Ana Ferreiro
No abstract text is available yet for this article.
January 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28190646/vocal-cord-paralysis-in-charcot-marie-tooth-type-4b1-disease-associated-with-a-novel-mutation-in-the-myotubularin-related-protein-2-gene-a-case-report-and-review-of-the-literature
#9
Alberto Andrea Zambon, Maria Grazia Natali Sora, Giovanna Cantarella, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Stefano Carlo Previtali, Alessandra Bolino
Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected...
January 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28189481/characterization-of-pulmonary-function-in-10-18-year-old-patients-with-duchenne-muscular-dystrophy
#10
Thomas Meier, Christian Rummey, Mika Leinonen, Paolo Spagnolo, Oscar H Mayer, Gunnar M Buyse
Pulmonary function loss in patients with Duchenne muscular dystrophy (DMD) is progressive and leads to pulmonary insufficiency. The purpose of this study in 10-18 year old patients with DMD is the assessment of the inter-correlation between pulmonary function tests (PFTs), their reliability and the association with the general disease stage measured by the Brooke score. Dynamic PFTs (peak expiratory flow [PEF], forced vital capacity [FVC], forced expiratory volume in one second [FEV1]) and maximum static airway pressures (MIP, MEP) were prospectively collected from 64 DMD patients enrolled in the DELOS trial (ClinicalTrials...
January 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28082205/blunted-respiratory-drive-response-in-late-onset-pompe-disease
#11
LETTER
Sergio G Monteiro, Eduardo L De Vito
No abstract text is available yet for this article.
December 30, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28159418/the-role-of-p62-sqstm1-in-sporadic-inclusion-body-myositis
#12
Satoshi Nakano, Mitsuaki Oki, Hirofumi Kusaka
We examined selective autophagy against ubiquitinated protein aggregates in sporadic inclusion body myositis (s-IBM) patients. The form of autophagy requires phosphorylation of serine 403 in p62/SQSTM1 to bind to Lys63-linked ubiquitin and the binding of the p62-ubiquitinated protein conjugates to LC3. In muscle biopsy specimens from 16 s-IBM patients, we compared the distribution of p62 (aa120-440) with 1) Ser403-phosphorylated p62 (S403-pp62), 2) Lys63-linked ubiquitin and 3) LC3 in double-colour immunofluorescence microscopy...
December 29, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28087120/response
#13
LETTER
Kenneth I Berger, Roberta M Goldring, Beno W Oppenheimer
No abstract text is available yet for this article.
December 29, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214269/immunohistochemistry-on-a-panel-of-emery-dreifuss-muscular-dystrophy-samples-reveals-nuclear-envelope-proteins-as-inconsistent-markers-for-pathology
#14
Phu Le Thanh, Peter Meinke, Nadia Korfali, Vlastimil Srsen, Michael I Robson, Manfred Wehnert, Benedikt Schoser, Caroline A Sewry, Eric C Schirmer
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular dystrophy mutations raised the possibility that such protein redistribution could underlie pathology and/or be diagnostic. However, this disorder is linked to 8 different genes encoding nuclear envelope proteins, raising the question of whether a particular protein is most relevant. Therefore, myoblast/fibroblast cultures from biopsy and tissue sections from a panel of nine Emery-Dreifuss muscular dystrophy patients (4 male, 5 female) including those carrying emerin and FHL1 (X-linked) and several lamin A (autosomal dominant) mutations were stained for the proteins linked to the disorder...
December 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28153460/prognostic-value-of-nocturnal-hypoventilation-in-neuromuscular-patients
#15
David Orlikowski, Helene Prigent, Maria-Antonia Quera Salva, Nicholas Heming, Cendrine Chaffaut, Sylvie Chevret, Djillali Annane, Frederic Lofaso, Adam Ogna
In neuromuscular disease (NMD) patients, current guidelines recommend the initiation of home mechanical ventilation (HMV) in case of daytime hypercapnia or nocturnal desaturation as an indirect sign of hypoventilation. Transcutaneous capno-oximetry (TcCO2) enables the direct assessment of nocturnal hypercapnia; however the best cut-off value remains to be defined. We aimed to compare the prognostic value of several published definitions of nocturnal hypercapnia in a cohort of NMD patients. All consecutive TcCO2 recordings performed between 2010 and 2014 in unventilated adult NMD patients in a tertiary reference centre were retrospectively collected...
December 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28089719/220th-enmc-workshop-dystroglycan-and-the-dystroglycanopathies-naarden-the-netherlands-27-29-may-2016
#16
Susan C Brown, Steve J Winder
No abstract text is available yet for this article.
December 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28082207/prevalence-of-myotonic-dystrophy-type-1-in-adults-in-western-sweden
#17
Christopher Lindberg, Fredrik Bjerkne
Myotonic dystrophy type 1 (DM1) is the most common inherited muscle disorder in adults. The prevalence differs widely between countries, but a figure of 13/100.000 is most frequently cited. It is a multi-organ disorder classified into four categories: congenital, childhood, adult/classical and late-onset/mild. The purpose of this study was to estimate the total and age adjusted prevalence of DM1 in adults in western Sweden (the Västra Götaland Region, VGR) as well as in the city of Gothenburg and also in the VGR except Gothenburg...
December 13, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28062219/is-one-trial-enough-for-repeated-testing-same-day-assessments-of-walking-mobility-and-fine-hand-use-in-people-with-myotonic-dystrophy-type-1
#18
Marie Kierkegaard, Emilie Petitclerc, Luc J Hébert, Cynthia Gagnon
Performance-based assessments of physical function are essential in people with myotonic dystrophy type 1 (DM1) to monitor disease progression and evaluate interventions. Commonly used are the six-minute walk test, the 10 m-walk test, the timed up-and-go test, the timed-stands test, grip strength tests and the nine-hole peg test. The number of trials needed on a same-day test occasion and whether the first, best or average of trials should be reported as result is unknown. Thus, the aim was to describe and explore differences between trials in these measures of walking, mobility and fine hand use in 70 adults with DM1...
December 5, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28169120/comparison-of-ambulatory-capacity-and-disease-progression-of-duchenne-muscular-dystrophy-subjects-enrolled-in-the-drisapersen-dmd114673-study-with-a-matched-natural-history-cohort-of-subjects-on-daily-corticosteroids
#19
Nathalie Goemans, Mar Tulinius, Anna-Karin Kroksmark, Rosamund Wilson, Marleen van den Hauwe, Giles Campion
Duchenne muscular dystrophy is a rare genetic disorder with life-limiting pathology. Drisapersen induces exon 51 skipping, thereby producing a shorter but functional dystrophin protein. The longest available data are from an open-label extension study (PRO051-02) treating 12 boys with drisapersen (6 mg/kg/week subcutaneously). The median change (range) from baseline to week 177 in six-minute walking distance (6MWD) was 8 (-263, 163) metres. The current analysis aimed to put the results from PRO051-02 in the context of natural progression by comparing the functional trajectory of drisapersen-treated subjects to a matched natural history (NH) cohort, treated by standard of care...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28161094/effects-of-duchenne-muscular-dystrophy-on-muscle-stiffness-and-response-to-electrically-induced-muscle-contraction-a-12-month-follow-up
#20
Lilian Lacourpaille, Raphaël Gross, François Hug, Arnaud Guével, Yann Péréon, Armelle Magot, Jean-Yves Hogrel, Antoine Nordez
The present study aimed to assess the ability of muscle stiffness (shear modulus) and response to electrically-induced muscle contraction to detect changes in muscle properties over a 12-month period in children with Duchenne muscular dystrophy (DMD). Ten children with DMD and nine age-matched healthy male controls participated in two experimental sessions (T0 and T+12months) separated by 12.4 ± 0.9 months. Two contractions of the biceps brachii were electrically-induced during which an ultrasound probe was placed over the muscle...
March 2017: Neuromuscular Disorders: NMD
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