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AIMS Neuroscience

2025, Volume 12, Issue 2: 291-311. doi: 10.3934/Neuroscience.2025016
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Review

Current landscape for the management of facioscapulohumeral muscular dystrophy and emerging treatment modalities: A literature review

  • California Northstate University College of Medicine, USA
  • Received: 03 May 2025 Revised: 18 June 2025 Accepted: 23 June 2025 Published: 25 June 2025

  • Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness, primarily affecting the facial, shoulder, and upper arm muscles. In this literature review, we examined the available treatments for FSHD, covering established methods and experimental approaches. We began with an overview of pharmacological treatments, emphasizing the importance of physical therapy and rehabilitation in maintaining muscle strength, improving mobility, preventing contractures, and respiratory therapy for severe cases. We also explored exercise interventions, addressing the debate surrounding exercise in FSHD patients, and highlight the possible benefits of aerobic and strength training, as well as ongoing research into safe exercise protocols. Additionally, the use of assistive devices and orthotics, such as braces and mobility aids, is discussed, along with surgical interventions like scapular fixation surgery and corrective procedures for foot drop. Emerging therapeutic strategies, including gene therapy focusing on DUX4 silencing and CRISPR-Cas9 technology, were evaluated. The potential of antisense oligonucleotides and myostatin inhibitors was reviewed, along with the challenges and ethical considerations associated with cell-based therapies. We aimed to inform researchers and advance treatment strategies for FSHD patients.

    Citation: Ubaid Ansari, Dawnica Nadora, Lauren Ong, Romteen Sedighi, Ethan Tabaie, Zaid Ansari, Meraj Alam, Burhaan Syed, Noorhan Amani, Sarah Preiss-Farzanegan. Current landscape for the management of facioscapulohumeral muscular dystrophy and emerging treatment modalities: A literature review[J]. AIMS Neuroscience, 2025, 12(2): 291-311. doi: 10.3934/Neuroscience.2025016

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  • Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness, primarily affecting the facial, shoulder, and upper arm muscles. In this literature review, we examined the available treatments for FSHD, covering established methods and experimental approaches. We began with an overview of pharmacological treatments, emphasizing the importance of physical therapy and rehabilitation in maintaining muscle strength, improving mobility, preventing contractures, and respiratory therapy for severe cases. We also explored exercise interventions, addressing the debate surrounding exercise in FSHD patients, and highlight the possible benefits of aerobic and strength training, as well as ongoing research into safe exercise protocols. Additionally, the use of assistive devices and orthotics, such as braces and mobility aids, is discussed, along with surgical interventions like scapular fixation surgery and corrective procedures for foot drop. Emerging therapeutic strategies, including gene therapy focusing on DUX4 silencing and CRISPR-Cas9 technology, were evaluated. The potential of antisense oligonucleotides and myostatin inhibitors was reviewed, along with the challenges and ethical considerations associated with cell-based therapies. We aimed to inform researchers and advance treatment strategies for FSHD patients.





    Conflict of interest


    The authors declare no conflict of interest.

    Authors' contributions


    The authors confirm contribution to the paper as follows: study conception and design: Ubaid Ansari, Dawnica Nadora, Lauren Ong, Romteen Sedighi, Ethan Tabaie, Zaid Ansari, Meraj Alam, Burhaan Syed, Noorhan Amani, Sarah Preiss-Farzanegan MD; data collection: Ubaid Ansari, Dawnica Nadora, Lauren Ong, Romteen Sedighi, Ethan Tabaie, Zaid Ansari, Meraj Alam, Burhaan Syed, Noorhan Amani, Sarah Preiss-Farzanegan MD; analysis and interpretation of results: Ubaid Ansari, Dawnica Nadora, Lauren Ong, Romteen Sedighi, Ethan Tabaie, Zaid Ansari, Meraj Alam, Burhaan Syed, Noorhan Amani, Sarah Preiss-Farzanegan MD; draft manuscript preparation: Ubaid Ansari, Dawnica Nadora, Lauren Ong, Romteen Sedighi, Ethan Tabaie, Zaid Ansari, Meraj Alam, Burhaan Syed, Noorhan Amani, Sarah Preiss-Farzanegan MD. All authors reviewed the results and approved the final version of the manuscript.

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