Skip to main content Accessibility help
×
Hostname: page-component-84b7d79bbc-g7rbq Total loading time: 0 Render date: 2024-07-27T21:28:19.920Z Has data issue: false hasContentIssue false

Chapter 50 - Spinal Muscular Atrophy (SMA)

from Spinal Muscular Atrophy

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
Get access

Summary

Spinal muscular atrophy (SMA) refers to a group of progressive neurodegenerative conditions primarily involving spinal anterior horn cells, as well as select bulbar motor neurons. Onset may be in infancy, childhood, or teen years (historically classified into Types 1, 2, and 3; see Table 50.1). Adult-onset (type 4) SMA is not discussed further here.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Verhaart, IEC, Robertson, A, Wilson, IJ, Aartsma-Rus, A, Cameron, S, Jones, CC, Cook, SF, Lochmüller, H. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy – a literature review. Orphanet J Rare Dis 2017;12:124–39.CrossRefGoogle ScholarPubMed
Peeters, K, Chamova, T, Jordanova, A. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain 2014; 137:2879–96.Google Scholar
Arnold, WD, Kassar, D, Kissel, JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015 51(2):157–67.CrossRefGoogle Scholar
Harding, BN. In: Developmental Neuropathology, 2nd edition, Adle-Biassette, H, Harding, BN, and Golden, JA, eds., John Wiley & Sons, 2018, pp. 469–75.Google Scholar
Prior, TW and Finanger, E. Spinal muscular atrophy. GeneReviews. Last updated December 22, 2016. www.ncbi.nlm.nih.gov/books/NBK1352/.Google Scholar
Darras, BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015 62(3):743–66.CrossRefGoogle ScholarPubMed
Finkel, RS, Mercuri, E, Darras, BT, Connolly, AM, Kuntz, NL, Kirschner, J, Chiriboga, CA, Saito, K, Servais, L, Tizzano, E, Topaloglu, H, Tulinius, M, Montes, J, Glanzman, AM, Bishop, K, Zhong, ZJ, Gheuens, S, Bennett, CF, Schneider, E, Farwell, W, De Vivo, DC, ENDEAR Study Group.Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017 377(18):1723–32.CrossRefGoogle ScholarPubMed
Lowes, LP, Alfano, LN, Arnold, WD, Shell, R, Prior, TW, McColly, M, Lehman, KJ, Church, K, Sproule, DM, Nagendran, S, Menier, M, Feltner, DE, Wells, C, Kissel, JT, Al-Zaidy, S, Mendell, J. Impact of age and motor function in a phase 1/2a study of infants with SMA type 1 receiving single-dose gene replacement therapy. Pediatr Neurol. 2019;98:39–45.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×