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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/28082205/blunted-respiratory-drive-response-in-late-onset-pompe-disease
#1
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/28087120/response
#2
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/28089719/220th-enmc-workshop-dystroglycan-and-the-dystroglycanopathies-naarden-the-netherlands-27-29-may-2016
#3
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/28082206/the-yield-of-diagnostic-work-up-of-patients-presenting-with-myalgia-exercise-intolerance-or-fatigue-a-prospective-observational-study
#4
M G E Te Riele, T H A Schreuder, N van Alfen, M Bergman, S Pillen, B W Smits, G J van der Wilt, H Groenewoud, N C Voermans, B G M van Engelen
Myalgia, fatigue, and exercise intolerance are cause for referral to a neurologist. However, the diagnostic value of history, neurological examination, and ancillary investigations in patients with these symptoms is unknown. This study provides a sound footing for deciding which ancillary investigations should be conducted. A prospective observational study of the diagnostic approach in 187 patients with myalgia, exercise intolerance, or fatigue as their predominant symptom was performed. The primary outcomes were independent contribution of referral letter, history, examination, and ancillary investigations to a myopathy diagnosis...
December 15, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28082209/resistant-myasthenia-gravis-and-rituximab-a-monocentric-retrospective-study-of-28-patients
#5
Vadim Afanasiev, Sophie Demeret, Francis Bolgert, Bruno Eymard, Pascal Laforêt, Olivier Benveniste
This retrospective study evaluated the efficiency and tolerance of rituximab in the management of resistant myasthenia gravis (MG). All patients who received rituximab for the treatment of MG between 2004 and 2015 at Pitié-Salpétrière University Hospital (Paris, France) were included. The efficacy of rituximab was evaluated every 6 months by the myasthenic muscle score (MMS), the Myasthenia Gravis Foundation of America - Clinical Classification (MGFA-CC), the MGFA Therapy Status and the Postintervention Status (PIS)...
December 14, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28082207/prevalence-of-myotonic-dystrophy-type-1-in-adults-in-western-sweden
#6
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/28087121/upper-extremity-outcome-measures-for-collagen-vi-related-myopathy-and-lama2-related-muscular-dystrophy
#7
Roxanna M Bendixen, Jocelyn Butrum, Mina S Jain, Rebecca Parks, Bonnie Hodsdon, Carmel Nichols, Michelle Hsia, Leslie Nelson, Katherine C Keller, Michelle McGuire, Jeffrey S Elliott, Melody M Linton, Irene C Arveson, Fatou Tounkara, Ruhi Vasavada, Elizabeth Harnett, Monal Punjabi, Sandra Donkervoort, Jahannaz Dastgir, Meganne E Leach, Anne Rutkowski, Melissa Waite, James Collins, Carsten G Bönnemann, Katherine G Meilleur
Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint. This study validated a battery of upper extremity measures in these two CMD subtypes for future clinical trials...
December 5, 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
#8
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/28062220/sleep-lung-function-and-quality-of-life-in-patients-with-myasthenia-gravis-a-cross-sectional-study
#9
Ezequiel Fernandes Oliveira, Sergio Roberto Nacif, Jessica Julioti Urbano, Anderson Soares Silva, Claudia Santos Oliveira, Eduardo Araujo Perez, Melissa Nunes Polaro, Berenice Cataldo Oliveira Valerio, Roberto Stirbulov, Giuseppe Insalaco, Acary Sousa Bulle Oliveira, Luis Vicente Franco Oliveira
The purpose of this study was to investigate the physiological variables of lung function, respiratory muscle strength, and sleep in clinically stable patients with myasthenia gravis. This was a prospective cross-sectional study conducted in accordance with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement. Patients adhering to the eligibility criteria were consecutively recruited from the Research Department of Neuromuscular Diseases at the Federal University of Sao Paulo and the Department of Neurology at Santa Casa de Misericordia of Sao Paulo and were referred to the Nove de Julho University Sleep Laboratory (Sao Paulo, Brazil)...
November 25, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28007404/20th-anniversary-meeting-of-the-meryon-society-worcester-college-oxford
#10
Alan E H Emery, Marcia Emery, Michael Swash, Jacqueline Mikol, Olivier Walusinski, Hans H Goebel
No abstract text is available yet for this article.
November 25, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28003112/study-of-duchenne-muscular-dystrophy-long-term-survivors-aged-40-years-and-older-living-in-specialized-institutions-in-japan
#11
Toshio Saito, Mitsuru Kawai, En Kimura, Katsuhisa Ogata, Toshiaki Takahashi, Michio Kobayashi, Hiroto Takada, Satoshi Kuru, Takashi Mikata, Tsuyoshi Matsumura, Naohiro Yonemoto, Harutoshi Fujimura, Saburo Sakoda
The national muscular dystrophy wards database of Japan lists 118 long-term Duchenne muscular dystrophy (DMD) patients who were at least 40 years old as of October 1, 2013. To elucidate the clinical features of DMD patients aged 40 years and older, we obtained gene analysis and muscle biopsy findings, as well as medical condition information. Ninety-four of the registered patients consented to participate, of whom 55 meeting genetic or biochemical criteria confirming DMD were analyzed. The mean age at the time of the study was 43...
November 25, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28024842/congenital-myasthenic-syndrome-in-israel-genetic-and-clinical-characterization
#12
Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, Simon Edvardson, Muhannad Daana, Talia Dor-Wollman, Aviva Mimouni-Bloch, Ayelet Halevy, Rony Cohen, Liora Sagie, Zohar Argov, Malcolm Rabie, Ronen Spiegel, Ilana Chervinsky, Naama Orenstein, Andrew G Engel, Yoram Nevo
The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified...
November 24, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27916344/advance-care-discussions-with-young-people-affected-by-life-limiting-neuromuscular-diseases-a-systematic-literature-review-and-narrative-synthesis
#13
Andy Hiscock, Isla Kuhn, Stephen Barclay
End of life care policy in the UK advocates open discussions between health professionals and patients as the end of life approaches. Despite well documented understanding of the progression of life-limiting neuromuscular diseases, the majority of patients affected by such conditions die without a formal end of life plan in place. We performed a systematic review to investigate conversations regarding end of life care between healthcare professionals and younger adult patients with life-limiting neuromuscular diseases...
November 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28065684/ighmbp2-related-clinical-and-genetic-features-in-a-cohort-of-chinese-charcot-marie-tooth-disease-type-2-patients
#14
Lei Liu, Xiaobo Li, Zhengmao Hu, Xiao Mao, Xiaohong Zi, Kun Xia, Beisha Tang, Ruxu Zhang
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. However, increasing AR-CMT2S cases without respiratory failure caused by IGHMBP2 mutations have been reported in the past two years. We detected IGHMBP2 mutations in a cohort of Chinese CMT2 patients using genes panel testing, polymerase chain reaction and Sanger sequencing. We found four families with autosomal recessive IGHMBP2 mutations, and the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inheritance...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28024840/intrafamilial-phenotypic-variability-in-andersen-tawil-syndrome-a-diagnostic-challenge-in-a-potentially-treatable-condition
#15
A Ardissone, V Sansone, L Colleoni, P Bernasconi, I Moroni
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28007405/ephedrine-treatment-for-autoimmune-myasthenia-gravis
#16
Alexander F Lipka, Charlotte Vrinten, Erik W van Zwet, Kirsten J M Schimmel, Martina C Cornel, Marja R Kuijpers, Yechiel A Hekster, Stephanie S Weinreich, Jan J G M Verschuuren
We studied the effect and safety of ephedrine as add-on treatment for patients with myasthenia gravis with acetylcholine receptor antibodies (AChR MG), who do not sufficiently respond to standard treatment. Four patients with AChR MG were included in a placebo-controlled, double-blind, and randomised, multiple crossover series of n-of-1 trials. Each n-of-1 trial consisted of 3 cycles, in which two 5-day intervention periods were followed by 2 days washout. In each cycle, ephedrine 50 mg daily in 2 doses was compared with placebo in the alternate treatment period...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27919547/granuloma-formation-in-a-patient-with-gne-myopathy-a-case-report
#17
Keiko Nakamura, Tsuyoshi Hamaguchi, Kenji Sakai, Daisuke Noto, Kenjiro Ono, Yukiko Hayashi, Ichizo Nishino, Masahito Yamada
We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28082208/body-composition-and-clinical-outcome-measures-in-patients-with-myotonic-dystrophy-type-1
#18
Saam Sedehizadeh, J David Brook, Paul Maddison
Myotonic Dystrophy type 1 (DM1) is the most common form of adult onset muscular dystrophy. In this study we compared body composition in DM1 and matched controls and evaluated the relationship between these parameters and clinical outcome measures in DM1 patients. In addition we established the sensitivity to change of these measures in a prospective 18 month longitudinal study of the DM1 patient cohort. Clinical data, manual muscle testing (MMT), quantitative muscle testing (QMT) of ankle dorsiflexion, bilateral grip dynamometry, 6 minute walk test and a DM1 functional rating scale (DM1-Activ) were collected at baseline (n = 38) and 18 month follow-up (n = 36)...
November 16, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28065683/cutaneous-features-of-myotonic-dystrophy-types-1-and-2-implication-of-premature-aging-and-vitamin-d-homeostasis
#19
Elena Campione, Annalisa Botta, Monia Di Prete, Emanuele Rastelli, Manuela Gibellini, Antonio Petrucci, Sergio Bernardini, Giuseppe Novelli, Luca Bianchi, Augusto Orlandi, Roberto Massa, Chiara Terracciano
Skin changes have been described in myotonic dystrophy type 1 (DM1). However, whether and in which way skin is a target of specific disease alterations in DM1 and DM2 has not been yet clarified. This study aims to explore cutaneous features of DM1 and DM2 patients. Skin examination was performed in 60 DM1, 15 DM2, and 103 control, unselected patients by means of dermoscopy. It revealed quantitative and qualitative abnormalities of nevi and typical signs of premature aging in both DM1 and DM2 patients, with a significantly higher frequency of dysplastic nevi, alopecia, xerosis and seborrheic dermatitis...
November 16, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28040389/homozygous-truncating-mutation-in-prenatally-expressed-skeletal-isoform-of-ttn-gene-results-in-arthrogryposis-multiplex-congenita-and-myopathy-without-cardiac-involvement
#20
Ana Fernández-Marmiesse, M Carmen Carrascosa-Romero, Blanca Alfaro Ponce, Andres Nascimento, Carlos Ortez, Norma Romero, Lourdes Palacios, Cecilia Jimenez-Mallebrera, Cristina Jou, Sofía Gouveia, María L Couce
We report the case of a newborn with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement in which, using a customized targeted next-generation sequencing assay for 64 myopathy-associated genes, we detected a novel homozygous truncating mutation, c.38661_38665del, in exon 197 of the TTN gene that is expressed only in the fetal skeletal isoform. Its pathogenicity is supported by evidence of maternal isodisomy for chromosome 2. Muscle pathology showed fibers with core-like areas devoid of oxidative staining and cytoplasmic bodies...
November 11, 2016: Neuromuscular Disorders: NMD
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