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Journal of Neuromuscular Diseases

Kristin J Krosschell, Michael Bosch, Leslie Nelson, Tina Duong, Linda P Lowes, Lindsay N Alfano, Danielle Benjamin, Terri B Carry, Ginger Devine, Carolyn Kelley, Rebecca Gadekan, Elizabeth C Malkus, Amy Pasternak, Stephanie Provance-Orr, Lynne Roemeiser-Logan, Alina Nicorici, Donata Trussell, Sally Dunaway Young, Jennifer R Fetterman, Jacqueline Montes, Penny J Powers, Rebecca Quinones, Janet Quigley, Christopher S Coffey, Jon W Yankey, Amy Bartlett, John T Kissel, Stephen J Kolb
BackgroundThe NeuroNEXT SMA Infant Biomarker Study, a two year, longitudinal, multi-center study of infants with SMA type 1 and healthy infants, presented a unique opportunity to assess multi-site rater reliability on three infant motor function tests (MFTs) commonly used to assess infants with SMA type 1.ObjectiveTo determine the effect of prospective MFT rater training and the effect of rater experience on inter-rater and intra-rater reliability for the Test of Infant Motor Performance Screening Items (TIMPSI), the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Alberta Infant Motor Scale (AIMS)...
September 8, 2018: Journal of Neuromuscular Diseases
Heather Gordish-Dressman, Raffaella Willmann, Laura Dalle Pazze, Arati Kreibich, Maaike van Putten, Ahlke Heydemann, Laurent Bogdanik, Cathleen Lutz, Kay Davies, Alexis R Demonbruen, Dongsheng Duan, David Elsey, So-Ichiro Fukada, Mahasweta Girgenrath, J Patrick Gonzalez, Miranda D Grounds, Andy Nichols, Terry Partridge, Marco Passini, Francesca Sanarica, Frederick J Schnell, Dominic J Wells, Toshifumi Yokota, Courtney S Young, Zhong Zhong, Christopher Spurney, Melissa Spencer, Annamaria De Luca, Kanneboyina Nagaraju, Annemieke Aartsma-Rus
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity of the dystropathology, with disease modifiers that also occur in DMD patients, making them attractive for efficacy studies and drug development. This workshop aimed at collecting and consolidating available data on the pathological features and the natural history of these new D2/mdx mice, for comparison with classic mdx mice and controls, and to identify gaps in information and their potential value...
September 3, 2018: Journal of Neuromuscular Diseases
Gauthier Remiche, Zoltan Lukacs, David C Kasper, Marc Abramowicz, Massimo Pandolfo
BACKGROUND: Late-onset glycogen storage disease type II is associated with variable muscle phenotypes. Epidemiological data suggest that its prevalence is lower in Belgium than in bordering countries like The Netherlands. OBJECTIVE: We investigated whether such low estimated prevalence is due to missed diagnoses. METHODS: We screened 100 patients with muscle phenotypes of undetermined origin using a dried blood spot test for alpha-acid glucosidase (GAA) activity...
August 31, 2018: Journal of Neuromuscular Diseases
T B M Tilanus, J T Groothuis, J M C Ten Broek-Pastoor, J Doorduin, B G M van Engelen, M J Kampelmacher, J Raaphorst
BACKGROUND AND OBJECTIVE: Non-invasive ventilation (NIV) is an established treatment for respiratory failure in patients with amyotrophic lateral sclerosis (ALS). Several studies have shown room for improvement with regard to respiratory care for ALS patients, including latency of referral. These studies focused on the time period starting at the moment of referral to a home ventilation service (HVS) onwards. In the current study we performed a nationwide survey to gain insight in the trajectory before referral...
August 27, 2018: Journal of Neuromuscular Diseases
David R Weber, Shiny Thomas, Stephen W Erickson, Deborah Fox, Joyce Oleszek, Shree Pandya, Yedatore Venkatesh, Christina Westfield, Emma Ciafaloni
BACKGROUND: Patients with Duchenne muscular dystrophy (DMD) are at high risk of endocrine and bone health complications resulting from the high glucocorticoid (GC) doses used to treat this condition. There are limited data characterizing the clinical management of these complications. OBJECTIVE: To determine the frequency of bone health screening, endocrinologist evaluation, and use of endocrine and bone health pharmacotherapy in the clinical care of males with DMD...
August 20, 2018: Journal of Neuromuscular Diseases
Hichem Tasfaout, Belinda S Cowling, Jocelyn Laporte
Centronuclear myopathies are a group of congenital myopathies characterized by severe muscle weakness, genetic heterogeneity, and defects in the structural organization of muscle fibers. Their names are derived from the central position of nuclei on biopsies, while they are at the fiber periphery under normal conditions. No specific therapy exists yet for these debilitating diseases. Mutations in the myotubularin phosphoinositides phosphatase, the GTPase dynamin 2, or amphiphysin 2 have been identified to cause respectively X-linked centronuclear myopathies (also called myotubular myopathy) or autosomal dominant and recessive forms...
July 28, 2018: Journal of Neuromuscular Diseases
C V Kouwenberg, N C Voermans, R Quinlivan, L van den Engel-Hoek
BACKGROUND: Exertional myalgia and cramps of the limb and trunk muscles are typical in McArdle disease, but mastication and oral motor limitations have not been systematically investigated before. OBJECTIVE: Determine the reported prevalence and characteristics of limitations on oral motor activities, mastication, swallowing, and other oral motor activities in patients with McArdle disease. METHODS: An observational study was carried out in 28 patients using a standardised questionnaire on mastication and oral motor function...
2018: Journal of Neuromuscular Diseases
Saskia Lassche, Barbara H Janssen, Ties IJzermans, Jurgen J Fütterer, Nicol C Voermans, Arend Heerschap, Benno Küsters, Ritse M Mann, Baziel Gm van Engelen
BACKGROUND: Sampling error is a common problem in muscle biopsies. MRI-guided biopsy allows verification of biopsy site during the procedure, which may reduce sampling error in patients with focal disease. OBJECTIVES: To describe the technique for MRI-guided muscle biopsy and discuss potential applications. METHODS: Axial MRI images were acquired to determine the target site for muscle biopsy. Needle trajectory was planned on 3D T1 weighted imaging and a MRI-guided biopsy of the vastus lateralis was performed in 13 FSHD patients...
2018: Journal of Neuromuscular Diseases
Lisa Minier, Baptiste Lignier, Cyrille Bouvet, Benjamin Gallais, Nathalie Camart
BACKGROUND: The last literature review on psychopathological features in Myotonic Dystrophy type 1 had been conducted by Ambrosini and Nurnberg in 1979. Since that date, many researches had been carried out. OBJECTIVE: The aim of this study is (i) to systematically obtain and evaluate the relevant literature on psychopathological features, personality, and coping in individuals with adult phenotypes of Myotonic Dystrophy type 1. (ii) To summarize current research findings and draw conclusions for future research...
2018: Journal of Neuromuscular Diseases
Lydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, Bjarne Udd, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski
BACKGROUND: Our previous array, the Comparative Genomic Hybridisation design (CGH-array) for nemaline myopathy (NM), named the NM-CGH array, revealed pathogenic copy number variation (CNV) in the genes for nebulin (NEB) and tropomyosin 3 (TPM3), as well as recurrent CNVs in the segmental duplication (SD), i.e. triplicate, region of NEB (TRI, exons 82-89, 90-97, 98-105). In the light of this knowledge, we have designed and validated an extended CGH array, which includes a selection of 187 genes known to cause neuromuscular disorders (NMDs)...
2018: Journal of Neuromuscular Diseases
Kelly M Jones, Gina O'Grady, Miriam J Rodrigues, Anna Ranta, Richard H Roxburgh, Donald R Love, Alice Theadom
BACKGROUND: Genetic muscle disorders, including muscular dystrophies, congenital myopathies, and ion channel muscle diseases can be associated with significant disability. OBJECTIVE: This study aimed to explore child and parent perspectives of the impact of living with a genetic muscle disorder. METHODS: Eighty-three children (<16 years) with a clinical or molecular diagnosis were identified as part of a national prevalence study. Parents' experiences and needs were assessed using a study-specific questionnaire...
2018: Journal of Neuromuscular Diseases
Jeovanna Lowe, Feni K Kadakia, Jonathan G Zins, Michael Haupt, Kyra K Peczkowski, Neha Rastogi, Kyle T Floyd, Elise P Gomez-Sanchez, Celso E Gomez-Sanchez, Mohammad T Elnakish, Jill A Rafael-Fortney, Paul M L Janssen
BACKGROUND: Mineralocorticoid receptor antagonists added to angiotensin converting enzyme inhibitors have shown preclinical efficacy for both skeletal and cardiac muscle outcomes in young sedentary dystrophin-deficient mdx mice also haploinsufficient for utrophin, a Duchenne muscular dystrophy (DMD) model. The mdx genotypic DMD model has mild pathology, making non-curative therapeutic effects difficult to distinguish at baseline. Since the cardiac benefit of mineralocorticoid receptor antagonists has been translated to DMD patients, it is important to optimize potential advantages for skeletal muscle by further defining efficacy parameters...
2018: Journal of Neuromuscular Diseases
Anthony Behin, Rozen Le Panse
Acquired Myasthenia Gravis (MG) is a neuromuscular disease caused by autoantibodies against components of the neuromuscular junction. It is a prototype organ-specific autoimmune disease with well-defined antigenic targets mainly the nicotinic acetylcholine receptor (AChR). Patients suffer from fluctuating, fatigable muscle weakness that worsens with activity and improves with rest.Various therapeutic strategies have been used over the years to alleviate MG symptoms. These strategies aim at improving the transmission of the nerve impulse to muscle or at lowering the immune system with steroids or immunosuppressant drugs...
2018: Journal of Neuromuscular Diseases
Eugenio Zapata-Aldana, Delia Ceballos-Sáenz, Rhiannon Hicks, Craig Campbell
BACKGROUND: Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and feeding therapy during the neonatal period, although long-term complications are less documented. OBJECTIVE: Present a prospective cohort of CDM and compare it to the literature of other CDM case series, to adequately describe and contrast the prenatal, neonatal and infancy features of CDM...
2018: Journal of Neuromuscular Diseases
Lotte Heutinck, Merel Jansen, Yolanda van den Elzen, Dick van der Pijl, Imelda J M de Groot
BACKGROUND: In boys with Duchenne muscular dystrophy (DMD), loss of upper limb function becomes more evident after the onset of wheelchair-dependency, because of the inability to lift the arms against gravity. With an increasing population of older wheelchair-dependent boys with DMD it is worthwhile to know whether training can delay the loss of upper limb functions. Dynamic arm supports may enable boys with impaired arm function to train their muscles without becoming exhausted by providing external mechanical compensation for muscle weakness...
2018: Journal of Neuromuscular Diseases
(no author information available yet)
No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
Luc J Hébert, Christophe Vial, Jean-Yves Hogrel, Jack Puymirat
BACKGROUND: In Myotonic Dystrophy type 1 (DM1) patients, ankle muscles are affected early and this impairment is reported to be a good biological marker for longitudinal studies. OBJECTIVE: To characterize the ankle dorsiflexion (DF) and eversion (EV) maximal isometric muscle strength changes in adult DM1 patients over 5 years using a standardized handheld dynamometer protocol and the Myoankle method, compare the changes measured with both methods and to the standard error of measurement, and verify the relationship between ankle muscle strength and gait performance...
2018: Journal of Neuromuscular Diseases
Maria E Farrugia, Marina Di Marco, Denyse Kersel, Caroline Carmichael
BackgroundFatigue in myasthenia gravis (MG) is common and difficult to manage. Unlike myasthenic weakness it is not amenable to drug therapies.ObjectiveOur primary aim was to investigate whether a combination of physical and psychological therapy would help address symptoms of fatigue in MG patients, who have stable disease but residual problematic fatigue. Our secondary aim was to quantitate fatigue by applying different scores and to ascertain which would be most relevant to apply in MG.MethodsWe recruited 10 MG patients with stable disease and who suffer from fatigue...
2018: Journal of Neuromuscular Diseases
Hanns Lochmüller, David Evans, Wildon Farwell, Richard Finkel, Nathalie Goemans, Mencia de Lemus, Vitaliy Matyushenko, Francesco Muntoni, Marie-Christine Ouillade, Inge Schwersenz, Petra Wilson
No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
Ellen Strijbos, Jan J G M Verschuuren, Jan B M Kuks
A patient with autoimmune myasthenia gravis and a clinical and serological follow-up of 13 years is described. In this unique case, serum samples were available up to two years before the clinical onset of the myasthenia gravis and showed gradual increase of acetylcholine receptor antibodies, starting two years before onset of the clinical symptoms.
2018: Journal of Neuromuscular Diseases
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