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Case report
peer-reviewed

Spinal Muscular Atrophy: The Treatment Approved



Abstract

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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Case report
peer-reviewed

Spinal Muscular Atrophy: The Treatment Approved


Author Information

Rabih Tabet Corresponding Author

Internal Medicine, Staten Island University Hospital, Northwell Health

Sandy El Bitar

Internal Medicine, Staten Island University Hospital, Northwell Health

Julie Zaidan

Internal Medicine, Staten Island University Hospital, Northwell Health

Garbis Dabaghian

Primary Care, Staten Island University Hospital, Northwell Health


Ethics Statement and Conflict of Interest Disclosures

Human subjects: Consent was obtained by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.


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Case report
peer-reviewed

Spinal Muscular Atrophy: The Treatment Approved

Rabih Tabet">Rabih Tabet , Sandy El Bitar">Sandy El Bitar, Julie Zaidan">Julie Zaidan, Garbis Dabaghian">Garbis Dabaghian

  • Author Information
    Rabih Tabet Corresponding Author

    Internal Medicine, Staten Island University Hospital, Northwell Health

    Sandy El Bitar

    Internal Medicine, Staten Island University Hospital, Northwell Health

    Julie Zaidan

    Internal Medicine, Staten Island University Hospital, Northwell Health

    Garbis Dabaghian

    Primary Care, Staten Island University Hospital, Northwell Health


    Ethics Statement and Conflict of Interest Disclosures

    Human subjects: Consent was obtained by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

    Acknowledgements


    Article Information

    Published: September 02, 2017

    DOI

    10.7759/cureus.1644

    Cite this article as:

    Tabet R, El bitar S, Zaidan J, et al. (September 02, 2017) Spinal Muscular Atrophy: The Treatment Approved. Cureus 9(9): e1644. doi:10.7759/cureus.1644

    Publication history

    Received by Cureus: July 17, 2017
    Peer review began: August 16, 2017
    Peer review concluded: August 28, 2017
    Published: September 02, 2017

    Copyright

    © Copyright 2017
    Tabet et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 3.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

    License

    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.

Abstract

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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Create a free account to continue reading this article.

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Rabih Tabet

Internal Medicine, Staten Island University Hospital, Northwell Health

For correspondence:
rtabet@northwell.edu

Sandy El Bitar

Internal Medicine, Staten Island University Hospital, Northwell Health

Julie Zaidan

Internal Medicine, Staten Island University Hospital, Northwell Health

Garbis Dabaghian

Primary Care, Staten Island University Hospital, Northwell Health

Rabih Tabet

Internal Medicine, Staten Island University Hospital, Northwell Health

For correspondence:
rtabet@northwell.edu

Sandy El Bitar

Internal Medicine, Staten Island University Hospital, Northwell Health

Julie Zaidan

Internal Medicine, Staten Island University Hospital, Northwell Health

Garbis Dabaghian

Primary Care, Staten Island University Hospital, Northwell Health