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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...

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Detalles Bibliográficos
Autores principales: Tabet, Rabih, El Bitar, Sandy, Zaidan, Julie, Dabaghian, Garbis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2017
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.
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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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