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Current Treatment Options in Neurology

02-04-2024 | Targeted Therapy | Review

Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)

Authors: Amanda X. Y. Chin, MBBS, MRCP, MMed, Zhi Xuan Quak, MBBS, MRCP, MMed, Yee Cheun Chan, MBBS, MRCP, FAMS, MHPE, Amy M. L. Quek, MBBS, MRCP, Kay W. P. Ng, MBBS, MRCP, MMed

Published in: Current Treatment Options in Neurology

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Abstract

Purpose of review

This review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral dystrophy (FSHD). We discuss current management options and delve into updates about developments in targeted therapy.

Recent findings

New breakthroughs in FSHD research have led to a further understanding of aberrant DUX4 protein expression in the underlying pathophysiology of FSHD. This has paved the way for the development of targeted therapies aimed at targeting DUX4 expression or its downstream effects. Therapeutic strategies for FSHD primarily target DUX4 through three main avenues: small molecules, antisense oligonucleotide therapeutics and CRISPR-based approaches. This review discusses these strategies further. Presently, all prospective targeted therapies are in the pre-clinical phase, except for losmapimod, which is currently undergoing a phase 3 clinical trial.

Summary

Given the absence of approved disease-modifying treatments for FSHD, the primary approach for management currently involves multidisciplinary supportive measures which are limited. Recent developments in the form of targeted therapies and strategies for the definitive treatment of FSHD indicate a promising era.
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Metadata
Title
Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)
Authors
Amanda X. Y. Chin, MBBS, MRCP, MMed
Zhi Xuan Quak, MBBS, MRCP, MMed
Yee Cheun Chan, MBBS, MRCP, FAMS, MHPE
Amy M. L. Quek, MBBS, MRCP
Kay W. P. Ng, MBBS, MRCP, MMed
Publication date
02-04-2024
Publisher
Springer US
Published in
Current Treatment Options in Neurology
Print ISSN: 1092-8480
Electronic ISSN: 1534-3138
DOI
https://doi.org/10.1007/s11940-024-00790-x