Literature DB >> 30881851

Management strategies in facioscapulohumeral muscular dystrophy.

Junren Lu1, Zhenjun Yao1, Yi Yang1, Chi Zhang1, Jian Zhang1, Ying Zhang2.   

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) also known as Landouzy-Dejerine disease, is an autosomal-dominant disorder of the skeletal muscles with the name according to the various muscle groups it affects: the face, shoulders and upper arms. It is the third most common genetic degenerative disorder of the skeletal muscles without specific patterns in all the affected individuals. At present there is no cure for the disease but numerous management strategies are available to improve the quality of life and prevent further degeneration of various muscle groups. This review aims to provide an insight on the management strategies for FSHD patients including both lifestyle and medical intervention.

Entities:  

Keywords:  Facioscapulohumeral muscular dystrophy; Landouzy-Dejerine disease; clinical manifestations; management; surgical intervention

Year:  2019        PMID: 30881851      PMCID: PMC6409109          DOI: 10.5582/irdr.2019.01016

Source DB:  PubMed          Journal:  Intractable Rare Dis Res        ISSN: 2186-3644


  3 in total

1.  DUX4 Transcript Knockdown with Antisense 2'-O-Methoxyethyl Gapmers for the Treatment of Facioscapulohumeral Muscular Dystrophy.

Authors:  Kenji Rowel Q Lim; Adam Bittel; Rika Maruyama; Yusuke Echigoya; Quynh Nguyen; Yiqing Huang; Kasia Dzierlega; Aiping Zhang; Yi-Wen Chen; Toshifumi Yokota
Journal:  Mol Ther       Date:  2020-10-15       Impact factor: 11.454

2.  DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD.

Authors:  Christian Klingler; Jon Ashley; Ke Shi; Adeline Stiefvater; Michael Kyba; Michael Sinnreich; Hideki Aihara; Jochen Kinter
Journal:  FASEB J       Date:  2020-02-05       Impact factor: 5.191

3.  Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.

Authors:  Jeffrey M Statland; Craig Campbell; Urvi Desai; Chafic Karam; Jordi Díaz-Manera; Jeffrey T Guptill; Lawrence Korngut; Angela Genge; Rabi N Tawil; Lauren Elman; Nanette C Joyce; Kathryn R Wagner; Georgios Manousakis; Anthony A Amato; Russell J Butterfield; Perry B Shieh; Matthew Wicklund; Josep Gamez; Cynthia Bodkin; Alan Pestronk; Conrad C Weihl; Juan J Vilchez-Padilla; Nicholas E Johnson; Katherine D Mathews; Barry Miller; Ashley Leneus; Marcie Fowler; Marc van de Rijn; Kenneth M Attie
Journal:  Muscle Nerve       Date:  2022-05-09       Impact factor: 3.852

  3 in total

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