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Spinal Muscular Atrophy: The Treatment Approved
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this dise...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669527/ https://www.ncbi.nlm.nih.gov/pubmed/29142792 http://dx.doi.org/10.7759/cureus.1644 |
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author | Tabet, Rabih El Bitar, Sandy Zaidan, Julie Dabaghian, Garbis |
author_facet | Tabet, Rabih El Bitar, Sandy Zaidan, Julie Dabaghian, Garbis |
author_sort | Tabet, Rabih |
collection | PubMed |
description | Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required. |
format | Online Article Text |
id | pubmed-5669527 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-56695272017-11-15 Spinal Muscular Atrophy: The Treatment Approved Tabet, Rabih El Bitar, Sandy Zaidan, Julie Dabaghian, Garbis Cureus Neurology Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required. Cureus 2017-09-02 /pmc/articles/PMC5669527/ /pubmed/29142792 http://dx.doi.org/10.7759/cureus.1644 Text en Copyright © 2017, Tabet et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Neurology Tabet, Rabih El Bitar, Sandy Zaidan, Julie Dabaghian, Garbis Spinal Muscular Atrophy: The Treatment Approved |
title | Spinal Muscular Atrophy: The Treatment Approved |
title_full | Spinal Muscular Atrophy: The Treatment Approved |
title_fullStr | Spinal Muscular Atrophy: The Treatment Approved |
title_full_unstemmed | Spinal Muscular Atrophy: The Treatment Approved |
title_short | Spinal Muscular Atrophy: The Treatment Approved |
title_sort | spinal muscular atrophy: the treatment approved |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669527/ https://www.ncbi.nlm.nih.gov/pubmed/29142792 http://dx.doi.org/10.7759/cureus.1644 |
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