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Bibliographie Sur Les Maladies Neuromusculaires Bibliography of Neuromuscular Disorders N° 2020-01-2 Du 7 Au 20 Janvier 2020 (January 7 to 20, 2020)

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Bibliographie Sur Les Maladies Neuromusculaires Bibliography of Neuromuscular Disorders N° 2020-01-2 Du 7 Au 20 Janvier 2020 (January 7 to 20, 2020) Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020) Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la « Veille Neuromusculaire » contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est issue des Fiches Techniques Savoir & Comprendre publiées par l'AFM-Téléthon intitulées « Principales maladies neuromusculaires » (Novembre 2017) et « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (Septembre 2018). Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase Every two weeks, the AFM documentation service publishes the “Neuromuscular Bibliography” in which you will find latest references published in Pubmed. The list of diseases below comes from both resources: « Principales maladies neuromusculaires » (November 2017) and « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (September 2018) published by AFM-Téléthon in Fiches Techniques Savoir & Comprendre Serie. Previous reports are available on Myobase, the informations tool about neuromuscular diseases. Sommaire par maladies / diseases Amyotrophies spinales – Spinal amyotrophies ........................................................................................... 3 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) .............. 3 Dystrophies musculaires congénitales – Congenital muscular dystrophies ........................................... 5 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ......................................................................................................................................... 6 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ......................................... 9 Dystroglycanopathies – Dystroglycanopathies ......................................................................................... 10 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 10 Dystrophies myotoniques – Myotonic dystrophies ................................................................................... 10 Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ....................... 12 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ............................................................ 12 Maladie de Brody – Brody disease .............................................................................................................. 13 Myasthénie autoimmune – Myasthenia gravis ........................................................................................... 13 Myopathies congénitales – Congenital myopathies .................................................................................. 16 Myopathies inflammatoires – Inflammatory myopathies .......................................................................... 18 Maladie de Pompe – Pompe disease ........................................................................................................... 24 Lipidoses musculaires – Lipid myopathies ................................................................................................ 25 Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 26 Myopathies myofibrillaires – Myofibrillar myopathies............................................................................... 27 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ..................................... 27 Syndrome de Lambert-Eaton – Lambert-eaton myasthenic syndrome ................................................... 27 Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) .......................... 28 Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ................. 28 Divers – Miscellaneous ................................................................................................................................. 30 Sommaire par spécialités / specialties Anatomopathologie – Anatomical pathology ............................................................................................. 33 Cardiologie – Cardiology .............................................................................................................................. 33 Myographie – Myography ............................................................................................................................. 34 AFM-Téléthon (Service Documentation) – 21/01/2020 1/39 Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020) Gastroentérologie / Nutrition – Gastroenterology / Nutrition ................................................................... 35 Imagerie médicale du muscle – Muscle medical imaging ......................................................................... 36 Médecine physique et de réadaptation – Physical and rehabilitation medicine ..................................... 37 Nephrologie – Nephrology ............................................................................................................................ 37 Pneumologie – Pulmonogy .......................................................................................................................... 37 AFM-Téléthon (Service Documentation) – 21/01/2020 2/39 Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders n° 2020-01-2 du 7 au 20 janvier 2020 (January 7 to 20, 2020) Amyotrophies spinales – Spinal amyotrophies 1. Neuromuscul Disord. 2019 Nov 14. pii: S0960-8966(19)31173-3. [Epub ahead of print] X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. Shaughnessy N1, Forman EB2, O'Rourke D2, Lynch SA3, Lynch B2. 1Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland. Electronic address: [email protected]. 2Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland. 3Department of Clinical Genetics, Children's University Hospital, Temple Street, Dublin, Ireland. KEYWORDS: Arthrogryposis; Contractures; Motor neuronopathy; UBA1 gene; X-linked spinal muscular atrophy (SMAX2) PMID: 31932168 DOI:10.1016/j.nmd.2019.11.004 2. Spine Deform. 2020 Jan 8. doi: 10.1007/s43390-019-00003-5. [Epub ahead of print] The value of preoperative labs in identifying "at-risk" patients for developing surgical site infections after pediatric neuromuscular spine deformity surgery. Furdock R1, Luhmann SJ2,3. 1Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO, USA. 2Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO, USA. [email protected]. 3St Louis Children's Hospital, 1 Children's Place, Suite 4S60, St. Louis, MO, 63110, USA. [email protected]. KEYWORDS: At-risk; Deformity; Labs; Spine; Surgical site infections PMID: 31925757 DOI: 10.1007/s43390-019-00003-5 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 3. Orphanet J Rare Dis. 2020 Jan 10;15(1):8. doi: 10.1186/s13023-019-1287-y. Management and current status of spinal muscular atrophy: a retrospective multicentre claims database analysis. Darbà J1. 1Department of Economics, Universitat de Barcelona, Diagonal 696, 08034, Barcelona, Spain. [email protected]. KEYWORDS: Claims database analysis; Disease management; Patient demographics; Spain; Spinal muscular atrophy PMID: 31924248 PMCID: PMC6954571 DOI:10.1186/s13023-019-1287-y 4. Int J Pediatr Otorhinolaryngol. 2019 Dec 18;130:109818. doi: 10.1016/j.ijporl.2019.109818. [Epub ahead of print] Trajectory of change in the swallowing status in spinal muscular atrophy type I. Choi YA1, Suh DI2, Chae JH2, Shin HI3. 1Department of Rehabilitation Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Republic of Korea. 2Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. 3Department of Rehabilitation Medicine, Seoul National University Hospital, College of Medicine, Seoul National University, Republic of Korea. Electronic address: [email protected]. KEYWORDS: Aspiration pneumonia; Deglutition; Deglutition disorders; Dysphagia; Gastrostomy; Spinal muscular atrophy; Videofluoroscopic swallowing study PMID: 31945686 DOI:10.1016/j.ijporl.2019.109818 5. Eur J Phys Rehabil Med. 2020 Jan 14. doi: 10.23736/S1973-9087.20.05968-7. [Epub ahead of print] The ICF-CY as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study. Trabacca A1, Lucarelli E2, Pacifico R2, Vespino T2, Di Liddo A2, Losito L2. 1Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Scientific Institute I.R.C.C.S. "E. Medea", Brindisi, Italy - [email protected]. 2Unit for Severe Disabilities in Developmental Age and Young Adults (Developmental Neurology and Neurorehabilitation), Scientific Institute I.R.C.C.S. "E. Medea",
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