Literature DB >> 29305137

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

Richard S Finkel1, Eugenio Mercuri2, Oscar H Meyer3, Anita K Simonds4, Mary K Schroth5, Robert J Graham6, Janbernd Kirschner7, Susan T Iannaccone8, Thomas O Crawford9, Simon Woods10, Francesco Muntoni11, Brunhilde Wirth12, Jacqueline Montes13, Marion Main11, Elena S Mazzone14, Michael Vitale15, Brian Snyder16, Susana Quijano-Roy17, Enrico Bertini18, Rebecca Hurst Davis19, Ying Qian20, Thomas Sejersen21.   

Abstract

This is the second half of a two-part document updating the standard of care recommendations for spinal muscular atrophy published in 2007. This part includes updated recommendations on pulmonary management and acute care issues, and topics that have emerged in the last few years such as other organ involvement in the severe forms of spinal muscular atrophy and the role of medications. Ethical issues and the choice of palliative versus supportive care are also addressed. These recommendations are becoming increasingly relevant given recent clinical trials and the prospect that commercially available therapies will likely change the survival and natural history of this disease.
Copyright © 2017. Published by Elsevier B.V.

Entities:  

Keywords:  Acute; Care; Nutrition; Pulmonary; Spinal muscular atrophy

Mesh:

Year:  2017        PMID: 29305137     DOI: 10.1016/j.nmd.2017.11.004

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  92 in total

1.  NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.

Authors:  Laura Torres-Benito; Svenja Schneider; Roman Rombo; Karen K Ling; Vanessa Grysko; Aaradhita Upadhyay; Natalia L Kononenko; Frank Rigo; C Frank Bennett; Brunhilde Wirth
Journal:  Am J Hum Genet       Date:  2019-06-20       Impact factor: 11.025

Review 2.  Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.

Authors:  Giuseppe Vita; Gian Luca Vita; Olimpia Musumeci; Carmelo Rodolico; Sonia Messina
Journal:  Neurol Sci       Date:  2019-02-25       Impact factor: 3.307

3.  Best and Safest Care Versus Care Closer to Home.

Authors:  Fauziya Hassan; Lynn A D'Andrea
Journal:  J Clin Sleep Med       Date:  2018-12-15       Impact factor: 4.062

Review 4.  Spinal muscular atrophy: state of the art and new therapeutic strategies.

Authors:  Sonia Messina; Maria Sframeli; Lorenzo Maggi; Adele D'Amico; Claudio Bruno; Giacomo Comi; Eugenio Mercuri
Journal:  Neurol Sci       Date:  2021-04-19       Impact factor: 3.307

5.  Cost Effectiveness of Nusinersen in the Treatment of Patients with Infantile-Onset and Later-Onset Spinal Muscular Atrophy in Sweden.

Authors:  Santiago Zuluaga-Sanchez; Megan Teynor; Christopher Knight; Robin Thompson; Thomas Lundqvist; Mats Ekelund; Annabelle Forsmark; Adrian D Vickers; Andrew Lloyd
Journal:  Pharmacoeconomics       Date:  2019-06       Impact factor: 4.981

6.  Drug treatment for spinal muscular atrophy types II and III.

Authors:  Renske I Wadman; W Ludo van der Pol; Wendy Mj Bosboom; Fay-Lynn Asselman; Leonard H van den Berg; Susan T Iannaccone; Alexander Fje Vrancken
Journal:  Cochrane Database Syst Rev       Date:  2020-01-06

Review 7.  Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain.

Authors:  Charlotte J Sumner; Thomas O Crawford
Journal:  J Clin Invest       Date:  2018-07-09       Impact factor: 14.808

Review 8.  Spinal muscular atrophy - insights and challenges in the treatment era.

Authors:  Eugenio Mercuri; Maria Carmela Pera; Mariacristina Scoto; Richard Finkel; Francesco Muntoni
Journal:  Nat Rev Neurol       Date:  2020-10-14       Impact factor: 42.937

9.  Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module.

Authors:  Beatrice Berti; Lavinia Fanelli; Roberto de Sanctis; Roberta Onesimo; Concetta Palermo; Daniela Leone; Sara Carnicella; Giulia Norcia; Nicola Forcina; Giorgia Coratti; Valentina Giorgio; Antonella Cerchiari; Simona Lucibello; Richard Finkel; Marika Pane; Eugenio Mercuri
Journal:  J Neuromuscul Dis       Date:  2021

10.  Persistent Pseudomonas aeruginosa infection associated with non-invasive ventilation in a child with spinal muscular atrophy type 1.

Authors:  Archana Chacko; Peter D Sly; Tim Kidd; Leanne Gauld
Journal:  J Clin Sleep Med       Date:  2021-03-01       Impact factor: 4.062

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