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The FSHD Society (named "FSH Society" until 2019) [170] was founded in 1991 on the East Coast by two individuals with FSHD, Daniel Perez and Stephen Jacobsen. [171] [172] The FSHD Society claims to have advocated for the standardization of the disease name facioscapulohumeral muscular dystrophy and its abbreviation FSHD. [170]
Fulcrum Therapeutics Announces Topline Results from Phase 3 REACH Clinical Trial of Losmapimod in Facioscapulohumeral Muscular Dystrophy (FSHD) ― Losmapimod failed to show an improvement in relative surface area (RSA), a measure of reachable workspace (RWS), versus placebo at week 48 ―
Mice that overexpress FRG1 display facioscapulohumeral muscular dystrophy. Gabellili et al. suggest that human facioscapulohumeral muscular dystrophy results from overexpression of FRG1 in "skeletal muscle, which leads to abnormal alternative splicing of specific pre-mRNAs." [9] This result has been replicated in tadpoles. [10]
The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase ... Facioscapulohumeral muscular dystrophy: 158900:
Losmapimod (GW856553X) is an investigational drug that reached stage III clinical trials for multiple medical conditions, but did not prove efficacy. It was most recently in development by Fulcrum Therapeutics for the treatment of facioscapulohumeral muscular dystrophy (FSHD).
The trial's participants included people afflicted with facioscapulohumeral muscular dystrophy, Becker's muscular dystrophy, and Limb-girdle muscular dystrophy. Through 2007 Wyeth had been analyzing the results but the hoped-for news and/or a publication in 2007 did not occur.
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
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