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Published online by Cambridge University Press:  21 November 2024

James Dolbow
Affiliation:
University Hospitals Cleveland Medical Center
Neel Fotedar
Affiliation:
University Hospitals Cleveland Medical Center
Joshua Edmondson
Affiliation:
University Hospital Cleveland Medical Centter
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Summary

Spinal muscular atrophy (SMA) is a type of motor neuron disease that is autosomal recessive and is passed by mutation of the SMN1 (survival motor neuron 1) gene located at chromosome 5q11. Though SMA is divided into four subtypes (SMA 1–4) based on the severity and age of onset of symptoms, symptoms generally consist of subacute weakness and lower motor neuron signs in the absence of sensory or cognitive impairment. Postural tremor is very common, and the vast majority of these individuals have tongue fasciculations.

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The Neurology Riddle Book
150 Common and Rare Neurological Diseases in Riddle Form
, pp. 179 - 182
Publisher: Cambridge University Press
Print publication year: 2024

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  • 56
  • James Dolbow, University Hospitals Cleveland Medical Center, Neel Fotedar, University Hospitals Cleveland Medical Center, Joshua Edmondson, University Hospital Cleveland Medical Centter
  • Book: The Neurology Riddle Book
  • Online publication: 21 November 2024
  • Chapter DOI: https://doi.org/10.1017/9781009527378.058
Available formats
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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.

  • 56
  • James Dolbow, University Hospitals Cleveland Medical Center, Neel Fotedar, University Hospitals Cleveland Medical Center, Joshua Edmondson, University Hospital Cleveland Medical Centter
  • Book: The Neurology Riddle Book
  • Online publication: 21 November 2024
  • Chapter DOI: https://doi.org/10.1017/9781009527378.058
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.

  • 56
  • James Dolbow, University Hospitals Cleveland Medical Center, Neel Fotedar, University Hospitals Cleveland Medical Center, Joshua Edmondson, University Hospital Cleveland Medical Centter
  • Book: The Neurology Riddle Book
  • Online publication: 21 November 2024
  • Chapter DOI: https://doi.org/10.1017/9781009527378.058
Available formats
×