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Neuromuscular Disorders: NMD

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https://read.qxmd.com/read/30987788/acta1-myopathy-with-prominent-finger-flexor-weakness-and-rimmed-vacuoles
#1
Teerin Liewluck, Zhiyv Niu, Steven A Moore, Mohammad Alsharabati, Margherita Milone
Actinopathy is a group of clinically and pathologically heterogeneous myopathies due to mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1). Disease-onset spans from prenatal life to adulthood and weakness can preferentially affect proximal or distal muscles. Myopathological findings include a spectrum of structural abnormalities with nemaline rods being the most common. We report a daughter and father with prominent finger flexors and/or quadriceps involvement. Muscle biopsies revealed rimmed vacuoles in both patients, associated with type 1 fiber atrophy in the daughter, and nemaline rods in the father...
March 2, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30956020/237th-enmc-international-workshop-gne-myopathy-current-and-future-research-hoofddorp-the-netherlands-14-16-september-2018
#2
Oksana Pogoryelova, J Andoni Urtizberea, Zohar Argov, Ichizo Nishino, Hanns Lochmüller
No abstract text is available yet for this article.
March 2, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30954388/participation-and-mental-well-being-of-mothers-of-home-living-patients-with-spinal-muscular-atrophy
#3
C H Cremers, M J Fischer, E T Kruitwagen-van Reenen, R I Wadman, J J Vervoordeldonk, M Verhoef, J M Visser-Meily, W L van der Pol, C D Schröder
Proximal spinal muscular atrophy (SMA) causes severe physical limitations but also has a major impact on the lives of parents. The aim of this study was to investigate participation and mental well-being (burden, emotional distress and satisfaction with participation) of parents of home-living patients with SMA. Caregiver burden was assessed with the Caregiver Strain Index, emotional distress with the Hospital Anxiety and Depression Scale and satisfaction with participation with the Utrecht Scale for Evaluation of Rehabilitation-Participation...
March 2, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30962064/distinct-segregation-of-the-pathogenic-m-5667g-a-mitochondrial-trna-asn-mutation-in-extraocular-and-skeletal-muscle-in-chronic-progressive-external-ophthalmoplegia
#4
Elena Schlapakow, Viktoriya Peeva, Gábor Zsurka, Monika Jeub, Bettina Wabbels, Cornelia Kornblum, Wolfram S Kunz
Chronic progressive external ophthalmoplegia (CPEO) is a frequent clinical manifestation of disorders caused by pathogenic mitochondrial DNA mutations. However, for diagnostic purposes skeletal muscle tissue is used, since extraocular muscle tissue is usually not available for work-up. In the present study we aimed to identify causative factors that are responsible for extraocular muscle to be primarily affected in CPEO. We performed comparative histochemical and molecular genetic analyses of extraocular muscle and skeletal muscle single fibers in a case of isolated CPEO caused by the heteroplasmic m...
February 25, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30992180/charcot-marie-tooth-disease-type-2cc-due-to-a-frameshift-mutation-of-the-neurofilament-heavy-polypeptide-gene-in-an-austrian-family
#5
Elena Ikenberg, Peter Reilich, Angela Abicht, Corina Heller, Benedikt Schoser, Maggie C Walter
Neurofilaments are structural components of motor axons. Recently different variants resulting in translation of a cryptic amyloidogenic element of the neurofilament-heavy polypeptide (NEFH) gene have been described to cause Charcot-Marie-Tooth disease type 2CC (CMT2CC) by forming amyloidogenic toxic protein aggregation. Until now only few CMT2CC patients have been described. Clinical features include progressive muscle weakness and atrophy mainly affecting the lower limbs, hyporeflexia and distal sensory impairment...
February 20, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30935748/fractures-and-bone-health-in-duchenne-muscular-dystrophy-in-scotland
#6
LETTER
M Di Marco, S Joseph, I Horrocks, S F Ahmed, S C Wong
No abstract text is available yet for this article.
February 20, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/31000324/wrist-drop-in-an-arcade-dancing-game-unusual-sudden-bilateral-radial-palsy
#7
Gabriel Cea, Juan Pablo Contreras, Shirley Aguilar, Julia Vera
Bilateral simultaneous radial palsy is uncommon, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary crutch or birthing bar during labor. We present a patient who developed a severe bilateral palsy after playing in a dancing simulator machine. The patient's position during the game was a combination of wrist extension, elbow flexion, retroversion of arms and a degree of minor torsion of both upper limbs. This mechanism has not been reported as a cause of neuropathic damage...
February 19, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30898524/cardiac-autonomic-function-evaluation-in-pediatric-and-adult-patients-with-congenital-myasthenic-syndromes
#8
Ceren Günbey, Kutay Sel, Çağrı Mesut Temuçin, Hayrettin Hakan Aykan, Bahadır Konuşkan, Tevfik Karagöz, Banu Anlar
Cardiac autonomic dysfunction has been examined in myasthenia gravis but not in congenital myasthenic syndromes (CMS). We aimed to evaluate cardiac autonomic functions in genetically defined CMS. Patients diagnosed with and under treatment for CMS were reviewed for 24-hour cardiac rhythm monitoring. Heart rate variability (HRV) measures were defined as: SDNN, mean of the standard deviations for all R-R intervals; SDNNi, standard deviation of all R-R intervals in successive five-minute epochs; RMSSD, square root of the mean of squared differences between successive R-R intervals...
February 19, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30898523/sleep-disordered-breathing-and-effects-of-non-invasive-ventilation-on-objective-sleep-and-nocturnal-respiration-in-patients-with-myotonic-dystrophy-type-i
#9
Jens Spiesshoefer, Maya Runte, Anna Heidbreder, Michael Dreher, Peter Young, Tobias Brix, Matthias Boentert
Patients with myotonic dystrophy type I (DM1) may develop nocturnal hypoventilation, requiring non-invasive ventilation. Data on long-term adherence to non-invasive ventilation, or sleep and ventilation outcomes are scarce. We retrospectively collected baseline polysomnography and capnometry results from 36 adult patients with sleep-related symptoms (42.9 ± 12.5 years, 20 female), plus follow-up sleep study records from those treated with non-invasive ventilation. Sleep-disordered breathing was found in 33 patients (91...
February 19, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30852071/respiratory-and-upper-limb-function-as-outcome-measures-in-ambulant-and-non-ambulant-subjects-with-duchenne-muscular-dystrophy-a-prospective-multicentre-study
#10
V Ricotti, V Selby, D Ridout, J Domingos, V Decostre, A Mayhew, M Eagle, J Butler, M Guglieri, M Van der Holst, M Jansen, J J G M Verschuuren, I J M de Groot, E H Niks, L Servais, V Straub, T Voit, J Y Hogrel, F Muntoni
The field of translational research in Duchenne muscular dystrophy (DMD) has been transformed in the last decade by a number of therapeutic targets, mostly studied in ambulant patients. A paucity of studies focus on measures that capture the non-ambulant stage of the disease, and the transition between the ambulant and non-ambulant phase. In this prospective natural history study, we report the results of a comprehensive assessment of respiratory, upper limb function and upper limb muscle strength in a group of 89 DMD boys followed in 3 European countries, 81 receiving corticosteroids, spanning a wide age range (5-18 years) and functional abilities, from ambulant (n = 60) to non-ambulant (n = 29)...
February 19, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30850168/mitochondrial-dna-depletion-in-sporadic-inclusion-body-myositis
#11
Padmanabh S Bhatt, Charalampos Tzoulis, Novin Balafkan, Hrvoje Miletic, Gia Tuong Thi Tran, Petter Schandl Sanaker, Laurence A Bindoff
Sporadic inclusion body myositis (sIBM) is a late onset disorder of unkown aetiology. Mitochondrial changes such as cytochrome oxidase deficient fibres are a well recognised feature and mitochondrial DNA (mtDNA) deletions have also been reported, but not consistently. Since mtDNA deletions are not present in all cases, we investigated whether other types of mtDNA abnormality were responsible for the mitochondrial changes. We studied 9 patients with sIBM. To control for fibre loss or replacement with inflammatory cells, we compared sIBM patients with necrotising myopathy (n = 4) as well as with healthy controls...
February 10, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30853171/-the-impact-of-european-neuromuscular-centre-enmc-workshops-on-the-neuromuscular-field-25-years-on-%C3%A2
#12
Alexandra Breukel, Raffaella Willmann, George Padberg, Ellen Sterrenburg, Ingeborg Meijer
Since 1992, the European Neuromuscular Centre facilitated workshops to bring experts in the field of neuromuscular disorders together. After organising more than 235 workshops, it is time to evaluate what impact these 25 years of ENMC workshops have had on the neuromuscular research field and on people affected by a neuromuscular condition. To measure this, workshop topics were retrospectively evaluated and bibliometric analyses on the citation scores of ENMC-derived publications were performed. In addition, a personalized survey was used to investigate the actual achievement and implementation of workshop deliverables...
February 7, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30926199/are-novel-outcome-measures-for-charcot-marie-tooth-disease-sensitive-to-change-the-6-minute-walk-test-and-stepwatch%C3%A2-activity-monitor-in-a-12-month-longitudinal-study
#13
Costanza Pazzaglia, Luca Padua, Davide Pareyson, Angelo Schenone, Alessia Aiello, Gian Maria Fabrizi, Tiziana Cavallaro, Lucio Santoro, Fiore Manganelli, Daniele Coraci, Franco Gemignani, Francesca Vitetta, Aldo Quattrone, Anna Mazzeo, Massimo Russo, Giuseppe Vita
Charcot-Marie-Tooth (CMT) is the most common inherited neuropathy, yet has no available pharmacological therapy. Past pharmacotherapy trials failed to provide positive results, possibly due to a poor choice of outcome measures. We previously performed a study in which we validated the 6-minute walk test and StepWatch™ Activity Monitor in CMT. The aim of the current study was to determine if these outcome measures are sensitive to change over a 12-month period. In this longitudinal multicenter study, 149 out of 169 initially enrolled patients were re-evaluated after 12 months using the 6-minute walk test, StepWatch™ Activity Monitor and other outcome measures commonly adopted in CMT disease...
February 2, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30826157/powered-standing-wheelchairs-promote-independence-health-and-community-involvement-in-adolescents-with-duchenne-muscular-dystrophy
#14
Nitamarie Vorster, Kerry Evans, Nada Murphy, Maina Kava, Anita Cairns, Damian Clarke, Monique M Ryan, Aris Siafarikas, Peter W Rowe, Stephanie Parkinson, Odette Gaynor, Linda Chiu, Janine Anderson, Klair Bayley, Peter Jacoby, Donna Cross, Jenny Downs
Duchenne muscular dystrophy is a common neuromuscular disorder involving progressive muscle weakness. A powered wheelchair standing device provides capacity to stand despite increasing muscle weakness. This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives. Semi-structured interviews were conducted with 12 adolescents, 11 parents and 11 teachers. Qualitative thematic analysis using a grounded theory framework was conducted to identify emerging domains...
February 2, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30658899/targeted-gene-approach-with-biochemical-assay-confirms-abcd1-mutation-of-x-linked-adrenoleukodystrophy-in-a-62-year-old-man-with-gait-imbalance
#15
Michelle L Mauermann, Zhiyv Niu, Deborah L Renaud, Jennifer L Kemppainen, Matthew J Schultz, Christopher J Klein
X-linked adrenoleukodystrophy is a peroxisomal disorder caused by a mutation in ABCD1 gene. The three main phenotypes of X-linked adrenoleukodystrophy include cerebral adrenoleukodystrophy, adrenomyeloneuropathy, and isolated primary adrenal insufficiency. More than 750 non-recurrent mutations exist throughout the coding region of the ABCD1 gene. We report a 62-year-old man with a 17-year history of progressive gait imbalance and numb feet. He had noted difficulty rising from a chair for 3 years. Examination revealed proximal lower limb weakness and length-dependent sensory loss with preservation of reflexes and unilateral Babinski sign...
February 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30658898/dropped-head-syndrome-as-a-manifestation-of-charcot-marie-tooth-disease-type-4c
#16
Camila Maria de Oliveira, Helena Fussiger, Pablo Brea Winckler, Jonas Alex Morales Saute
Charcot Marie Tooth disease type 4C (CMT4C) is considered the most frequent autosomal recessive form of CMT worldwide, being described as an early-onset disorder with marked clinical heterogeneity. We report a CMT4C case associated with dropped head syndrome and predominant involvement of proximal muscles. An 11-year-old boy born to consanguineous parents presented with predominantly proximal muscle weakness with facial involvement, associated with dropped head and severe scoliosis. Symptoms started at the age of 3 years-old with frequent falls...
February 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30926200/first-familial-becker-muscular-dystrophy-in-tanzania-clinical-and-genetic-features
#17
M C J Dekker, A A Tieleman, O J Igogo, H A van Duyvenvoorde, W P Howlett, B C Hamel
In African neurological practice, muscle disorders are either underdiagnosed or underrepresented. This may in part be due to the large burden of other more common neurological disorders. In this report we describe the first Tanzanian patient with genetically confirmed Becker muscular dystrophy. His phenotype and genotype were compatible with elsewhere in the world. Remarkably, this patient reported his progressive weakness of the legs with difficulty in walking only after a fall. We demonstrate that muscular dystrophies occur in sub-Saharan Africa...
January 25, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30803852/236th-enmc-international-workshop-bone-protective-therapy-in-duchenne-muscular-dystrophy-determining-the-feasibility-and-standards-of-clinical-trials-hoofddorp-the-netherlands-1-3-june-2018
#18
Sze Choong Wong, Volker Straub, Leanne M Ward, Ros Quinlivan
No abstract text is available yet for this article.
January 12, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30737080/neuromuscular-disorders-in-israel-a-model-country-for-ethnic-clusters
#19
Zohar Argov
No abstract text is available yet for this article.
January 11, 2019: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/30737079/congenital-disorder-of-glycosylation-type-1t-with-a-novel-truncated-homozygous-mutation-in-pgm1-gene-and-literature-review
#20
Wo-Tu Tian, Xing-Hua Luan, Hai-Yan Zhou, Chao Zhang, Xiao-Jun Huang, Xiao-Li Liu, Sheng-Di Chen, Hui-Dong Tang, Li Cao
The congenital disorders of glycosylation are a group of clinically and biochemically heterogeneous diseases characterized by multisystem involvement due to glycosylation defect of protein and lipid. Here we report a 49-year-old man with exercise-induced fatigue and pain of muscle, tachypnea, cleft palate and bifid uvula. Exercise induced elevation of serum creatine kinase (CK), ammonia and lactic acid was recorded. The abnormal levels of myoglobin, CK-MB and LDH as well as S-T elevation in electrocardiogram were observed in repeated hospitalization recordings...
January 6, 2019: Neuromuscular Disorders: NMD
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