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Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm.
Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, [1] whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually extremely rare – genetic disorders.
Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD). [2] It preferentially affects the muscles of the hip girdle and shoulder girdle. No disease modifying pharmaceuticals have been developed as of 2019, although physical therapy, lifestyle modification, and orthopedic surgery can address symptoms.
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).
Beevor’s sign is characteristic of spinal cord injury between T9 and T10 levels. [3] The sign has also been observed in amyotrophic lateral sclerosis, a disease causing progressive weakening of the muscles of multiple areas of the body, and in facioscapulohumeral muscular dystrophy (FSHD), a disease named after areas of the body it preferentially weakens (face, shoulder, and upper arm).
Fulcrum intends to use these resources to advance pociredir for the treatment of SCD, novel therapeutic agents for the treatment of Diamond-Blackfan Anemia (DBA), and early discovery programs. About the REACH Trial REACH (NCT05397470) is a Phase 3 multi-center, randomized, double-blind, placebo-controlled trial designed to evaluate the efficacy ...
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]
Coats' disease is a rare extramuscular manifestation of facioscapulohumeral muscular dystrophy (FSHD). A single study reported it in 1 percent of FSHD patients, most often those with FSHD type 1 (FSHD1) with large D4Z4 deletions .