Literature DB >> 29142792

Spinal Muscular Atrophy: The Treatment Approved.

Rabih Tabet1, Sandy El Bitar1, Julie Zaidan1, Garbis Dabaghian2.   

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.

Entities:  

Keywords:  neuromuscular disorders; nusinersen; spinal muscular atrophy

Year:  2017        PMID: 29142792      PMCID: PMC5669527          DOI: 10.7759/cureus.1644

Source DB:  PubMed          Journal:  Cureus        ISSN: 2168-8184


  4 in total

Review 1.  Spinal Muscular Atrophy.

Authors:  Stephen J Kolb; John T Kissel
Journal:  Neurol Clin       Date:  2015-11       Impact factor: 3.806

Review 2.  Spinal muscular atrophy: diagnosis and management in a new therapeutic era.

Authors:  W David Arnold; Darine Kassar; John T Kissel
Journal:  Muscle Nerve       Date:  2014-12-16       Impact factor: 3.217

3.  Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.

Authors:  Richard S Finkel; Claudia A Chiriboga; Jiri Vajsar; John W Day; Jacqueline Montes; Darryl C De Vivo; Mason Yamashita; Frank Rigo; Gene Hung; Eugene Schneider; Daniel A Norris; Shuting Xia; C Frank Bennett; Kathie M Bishop
Journal:  Lancet       Date:  2016-12-07       Impact factor: 79.321

4.  Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.

Authors:  Claudia A Chiriboga; Kathryn J Swoboda; Basil T Darras; Susan T Iannaccone; Jacqueline Montes; Darryl C De Vivo; Daniel A Norris; C Frank Bennett; Kathie M Bishop
Journal:  Neurology       Date:  2016-02-10       Impact factor: 9.910

  4 in total

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