Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Qian, Ying and Sejersen, Thomas (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromusc. Disord., 28 (2). S. 103 - 116. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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Abstract

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2. (C) 2017 Published by Elsevier B.V.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Mercuri, EugenioUNSPECIFIEDorcid.org/0000-0002-9851-5365UNSPECIFIED
Finkel, Richard S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muntoni, FrancescoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wirth, BrunhildeUNSPECIFIEDorcid.org/0000-0003-4051-5191UNSPECIFIED
Montes, JacquelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Main, MarionUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mazzone, Elena S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vitale, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Snyder, BrianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Quijano-Roy, SusanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bertini, EnricoUNSPECIFIEDorcid.org/0000-0001-9276-4590UNSPECIFIED
Davis, Rebecca HurstUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meyer, Oscar H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simonds, Anita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schroth, Mary K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Graham, Robert J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kirschner, JanberndUNSPECIFIEDorcid.org/0000-0003-1618-7386UNSPECIFIED
Iannaccone, Susan T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Crawford, Thomas O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woods, SimonUNSPECIFIEDorcid.org/0000-0002-8998-5234UNSPECIFIED
Qian, YingUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sejersen, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-196653
DOI: 10.1016/j.nmd.2017.11.005
Journal or Publication Title: Neuromusc. Disord.
Volume: 28
Number: 2
Page Range: S. 103 - 116
Date: 2018
Publisher: PERGAMON-ELSEVIER SCIENCE LTD
Place of Publication: OXFORD
ISSN: 1873-2364
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
EARLY-ONSET SCOLIOSIS; CONTROLLED GROWING RODS; MOTOR-NEURON GENE; SMN2 COPY NUMBER; NEUROMUSCULAR SCOLIOSIS; CLINICAL-TRIALS; PHENOTYPIC VARIABILITY; CONSENSUS STATEMENT; OPERATIVE TREATMENT; GLUCOSE-METABOLISMMultiple languages
Clinical Neurology; NeurosciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/19665

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