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neuromuscular disorder

Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert, Marie Christine Vantyghem
BACKGROUND: Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer. A routine endocrine work-up, including thyroid ultrasound (US), was conducted in 115 genetically-proven DM1 patients in a neuromuscular reference center. The aim of this study was to determine the prevalence and the causes of US thyroid abnormalities in DM1. RESULTS: In the whole population (age 45.1 ± 12.2 years, 61...
February 13, 2019: Orphanet Journal of Rare Diseases
Anna Castells-Nobau, Ilse Eidhof, Michaela Fenckova, Dova B Brenman-Suttner, Jolanda M Scheffer-de Gooyert, Sheren Christine, Rosa L Schellevis, Kiran van der Laan, Christine Quentin, Lisa van Ninhuijs, Falko Hofmann, Radoslaw Ejsmont, Simon E Fisher, Jamie M Kramer, Stephan J Sigrist, Anne F Simon, Annette Schenck
FOXP proteins form a subfamily of evolutionarily conserved transcription factors involved in the development and functioning of several tissues, including the central nervous system. In humans, mutations in FOXP1 and FOXP2 have been implicated in cognitive deficits including intellectual disability and speech disorders. Drosophila exhibits a single ortholog, called FoxP, but due to a lack of characterized mutants, our understanding of the gene remains poor. Here we show that the dimerization property required for mammalian FOXP function is conserved in Drosophila...
2019: PloS One
Haluk Topaloğlu
No abstract text is available yet for this article.
December 28, 2018: Neuromuscular Disorders: NMD
Christyn Edmundson, Shawn J Bird
Neuromuscular emergencies may be defined as disorders or exacerbation of diseases of the peripheral nervous system that are rapidly progressive and potentially life-threatening. Such disorders can affect any level of the peripheral nervous system, from the muscle to the anterior horn cell. While their clinical manifestations may vary, severe morbidity and mortality is most frequently the result of neuromuscular respiratory failure. Some disorders, such as Guillain-Barré syndrome, provide the additional threat of severe, and potentially irreversible, nerve loss...
February 2019: Seminars in Neurology
David Jacquier, Christopher John Newman
OBJECTIVE: Children with motor disabilities such as cerebral palsy or neuromuscular diseases present more sleep disorders than their typically developing (TD) peers. However, research on these populations has always been performed using historical normative datasets or controls such as siblings. Therefore, we assessed the sleep quality of children with motor disabilities in comparison with a large, contemporary, general population sample. METHODS: Demographic, medical, and the Sleep Disturbance Scale for Children (SDSC) questionnaires were sent to parents of children aged 4-18 years and followed by our tertiary pediatric neurorehabilitation clinic, and to those of school-aged children in regional primary and secondary schools...
December 14, 2018: Sleep Medicine
Panteleimon D Mavroudis, John van den Anker, Laurie S Conklin, Jesse M Damsker, Eric P Hoffman, Kanneboyina Nagaraju, Paula R Clemens, William J Jusko
Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder occurring in boys and caused by mutations in the dystrophin gene. Vamorolone is a first-generation delta-9,11 compound that has favorable efficacy and side effect profiles relative to classical glucocorticoids. The pharmacokinetics (PK) of oral vamorolone were assessed in parallel-group studies in healthy men (phase 1, n = 86) and boys with DMD (phase 2a, n = 48) during 14 days of once-daily dosing with a range of doses. Vamorolone exhibited moderate variability in PK, with the maximum plasma concentration usually occurring at 2-4 hours and a half-life of approximately 2 hours for all doses and days examined...
February 11, 2019: Journal of Clinical Pharmacology
Zohar Argov
No abstract text is available yet for this article.
January 11, 2019: Neuromuscular Disorders: NMD
Chaya Murali, Dong Li, Katheryn Grand, Hakon Hakonarson, Elizabeth Bhoj
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by perturbations in signal transduction at the neuromuscular junction. Defects in muscle, skeletal, receptor tyrosine kinase (MuSK) cause two distinct phenotypes: fetal akinesia with multiple congenital anomalies (Fetal akinesia deformation sequence [MIM:208150]) and early onset congenital myasthenia (myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency [MIM:616325]). Myasthenia due to MuSK deficiency has variable clinical features, ranging from a milder presentation of isolated late-onset proximal muscle weakness; to a severe presentation of prenatal-onset diffuse weakness, ophthalmoplegia, respiratory failure, and vocal cord paralysis (VCP)...
February 4, 2019: American Journal of Medical Genetics. Part A
Anna Kuo, Joshua J Todd, Jessica W Witherspoon, Tokunbor A Lawal, Jeffery Elliott, Irene C Chrismer, Monique O Shelton, Muslima S Razaqyar, Minal S Jain, Ruhi Vasavada, Melissa Waite, Bart Drinkard, Darren Michael, Alicia Richarte, Carsten G Bönnemann, Katherine G Meilleur
BACKGROUND: RYR1-related disorders (RYR1-RD), are a spectrum of genetic neuromuscular disorders. Affected individuals frequently experience fatigue yet appropriate tools to assess RYR1-RD-associated fatigue remain underdeveloped. OBJECTIVE: This study assessed the reliability and validity of two self-report questionnaires, the multidimensional fatigue inventory (MFI-20) and adult/pediatric functional assessment of chronic illness-fatigue (FACIT-F/Peds-FACIT-F) as potential fatigue measures in RYR1-RD affected individuals...
2019: Journal of Neuromuscular Diseases
Erik Landfeldt, Josefin Edström, Cecilia Jimenez-Moreno, Baziel G M van Engelen, Janbernd Kirschner, Hanns Lochmüller
BACKGROUND: Adult-onset myotonic dystrophy type 1 (DM1) is a chronic, multisystem disorder that leads to disability and premature death. OBJECTIVES: The objective of our study was to conduct a systematic literature review of the health-related quality of life (HRQoL) of patients with DM1. METHODS: We searched Embase, Web of Science, and PubMed for English language full-text articles reporting results from studies of HRQoL in patients with adult-onset DM1 published between 1 January 2000 and 21 February 2018...
February 4, 2019: Patient
Santiago Zuluaga-Sanchez, Megan Teynor, Christopher Knight, Robin Thompson, Thomas Lundqvist, Mats Ekelund, Annabelle Forsmark, Adrian D Vickers, Andrew Lloyd
BACKGROUND: Spinal muscular atrophy is a rare neuromuscular disorder with a spectrum of severity related to age at onset and the number of SMN2 gene copies. Infantile-onset (≤ 6 months of age) is the most severe spinal muscular atrophy and is the leading monogenetic cause of infant mortality; patients with later-onset (> 6 months of age) spinal muscular atrophy can survive into adulthood. Nusinersen is a new treatment for spinal muscular atrophy. OBJECTIVE: The objective of this study was to evaluate the cost effectiveness of nusinersen for the treatment of patients with infantile-onset spinal muscular atrophy and later-onset spinal muscular atrophy in Sweden...
February 4, 2019: PharmacoEconomics
Massimiliano Filosto, Stefano Cotti Piccinelli, Costanza Lamperti, Tiziana Mongini, Serenella Servidei, Olimpia Musumeci, Paola Tonin, Filippo Maria Santorelli, Costanza Simoncini, Guido Primiano, Liliana Vercelli, Anna Rubegni, Anna Galvagni, Maurizio Moggio, Giacomo Pietro Comi, Valerio Carelli, Antonio Toscano, Alessandro Padovani, Gabriele Siciliano, Michelangelo Mancuso
Muscle pain may be part of many neuromuscular disorders including myopathies, peripheral neuropathies and lower motor neuron diseases. Although it has been reported also in mitochondrial diseases (MD), no extensive studies in this group of diseases have been performed so far. We reviewed clinical data from 1398 patients affected with mitochondrial diseases listed in the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", to assess muscle pain and its features. Muscle pain was present in 164 patients (11...
February 2, 2019: Journal of Neurology
Nimeshan Geevasinga, James Howells, Parvathi Menon, Mehdi van den Bos, Kazumoto Shibuya, José Manuel Matamala, Susanna B Park, Karen Byth, Matthew C Kiernan, Steve Vucic
OBJECTIVE: The aim of the study was to assess the utility of a novel amyotrophic lateral sclerosis (ALS) diagnostic index (ALSDI). METHODS: A prospective multicenter study was undertaken on patients presenting with suspected ALS. The reference standard (Awaji criteria) was applied to all patients at recruitment. Patients were randomly assigned to a training (75%) and a test (25%) cohort. The ALSDI was developed in the training cohort and its diagnostic utility was subsequently assessed in the test cohort...
February 5, 2019: Neurology
Chiba Shintaro, Chan-Soon Park
The role of the nose in the pathophysiology and treatment of sleep-disordered breathing (SDB) has not been fully understood and might have been underestimated. In the Staring resistor model, the nose is regarded as a passive and noncollapsible tube, but recent studies have shown that the nose might participate more in the pathophysiology of SDB as anatomic, neuromuscular, and respiratory factors than previously reported, which might imply the nose is an active noncollapsible tube. The roles of nasal treatments for OSA are not only the reduction of AHI, but also the improvement of subjective symptoms, sleep quality, and CPAP adherence...
March 2019: Sleep Medicine Clinics
Bernd Georg Lapatki, Ulrike Eiglsperger, Hans Jürgen Schindler, Johanna Radeke, Ales Holobar, Johannes Petrus van Dijk
OBJECTIVE: This study aimed to characterize amplitude topographies for masseter motor units (MUs) three-dimensionally, and to assess whether high-density surface electromyography (HDsEMG) is able to detect MU samples that represent the masseter's entire MU pool. METHODS: Ten healthy adult volunteers participated in the study, which combined three EMG techniques. A HDsEMG grid covering the entire masseter, and intramuscular fine-wire electrodes were used to obtain two independent MU samples for comparison...
January 19, 2019: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Emily Hanson, Mark Sheldon, Brenda Pacheco, Mohammed Alkubeysi, Veena Raizada
Friedreich's ataxia (FRDA), which occurs in 1/50000 live births, is the most prevalent inherited neuromuscular disorder. Nearly all FRDA patients develop cardiomyopathy at some point in their lives. The clinical manifestations of FRDA include ataxia of the limbs and trunk, dysarthria, diabetes mellitus, and cardiac diseases. However, the broad clinical spectrum makes FRDA difficult to identify. The diagnosis of FRDA is based on the presence of suspicious clinical factors, the use of the Harding criteria and, more recently, the use of genetic testing for identifying the expansion of a triplet nucleotide sequence...
January 26, 2019: World Journal of Cardiology
Annalisa Cutrignelli, Francesca Sanarica, Antonio Lopalco, Angela Lopedota, Valentino Laquintana, Massimo Franco, Brigida Boccanegra, Paola Mantuano, Annamaria De Luca, Nunzio Denora
New scientific findings have recently shown that dasatinib (DAS), the first-choice oral drug in the treatment of chronic myeloid leukemia (CML) for adult patients who are resistant or intolerant to imatinib, is also potentially useful in the paediatric age. Moreover, recent preclinical evidences suggest that this drug could be useful for the treatment of Duchenne muscular dystrophy, since it targets cSrc tyrosin kinase. Based on these considerations, the purpose of this work was to use the strategy of complexation with hydroxypropyl-β-cyclodextrin (HP-β-CD) in order to obtain an aqueous preparation of DAS, which is characterized by a low water solubility (6...
January 30, 2019: International Journal of Molecular Sciences
Yu-Ling Cao, Wei Dong, Yu-Zhi Li, Wei Han
OBJECTIVES: Myasthenia gravis (MG) is an organ-specific autoimmune neuromuscular disorder that occurs as a result of the impairment in neuromuscular junction and autoantibody attack on the postsynaptic receptors. Increasing evidence suggests that microRNAs (miRs) might be involved in the development of MG. Therefore, the present study aimed to investigate the regulatory function of miR-653 on MG and its relationship with tripartite motif 9 (TRIM9). METHODS: The thymic tissues obtained from MG patients with thymic hyperplasia were prepared for establishing an MG mouse model in BALB/c mice...
January 31, 2019: Neuroimmunomodulation
Simon A Lowe, Maria M Usowicz, James J L Hodge
Down syndrome (DS) is characterised by abnormal cognitive and motor development, and later in life by progressive Alzheimer's disease (AD)-like dementia, neuropathology, declining motor function and shorter life expectancy. It is caused by trisomy of chromosome 21 (Hsa21), but how individual Hsa21 genes contribute to various aspects of the disorder is incompletely understood. Previous work has demonstrated a role for triplication of the Hsa21 gene DYRK1A in cognitive and motor deficits, as well as in altered neurogenesis and neurofibrillary degeneration in the DS brain, but its contribution to other DS phenotypes is unclear...
January 28, 2019: Neurobiology of Disease
Remco T P van Cruchten, Berend Wieringa, Derick G Wansink
Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disorder caused by expansion of a CTG repeat in the 3' untranslated region (UTR) of the DMPK gene. Mutant DMPK transcripts form aberrant structures and anomalously associate with RNA-binding proteins. As a first step towards better understanding of the involvement of abnormal DMPK mRNA folding in DM1 manifestation, we used SHAPE, DMS, CMCT and RNase T1 structure probing in vitro for modelling of the topology of the DMPK 3' UTR with normal and pathogenic repeat lengths of up to 197 CUG triplets...
January 30, 2019: RNA
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