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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]
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 diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy.
(Reuters) -A young patient died due to cardiac arrest after receiving Pfizer's experimental gene therapy being tested in a mid-stage trial for a muscle-wasting disorder called Duchenne muscular ...
(Reuters) -Sarepta Therapeutics' gene therapy to treat Duchenne muscular dystrophy (DMD), a progressive muscle-wasting disorder, failed to meet the main goal of a late-stage trial when tested in ...
Reachable workspace is an outcome measure used in medicine to track disease progression in neuromuscular disorders that affect the upper extremities. [1] [2] It is defined as the space, relative to the torso, that an individual can reach by moving their upper extremities. [1]
Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene. [5] Dysferlin is linked with plasma membrane repair., [6] stabilization of calcium signaling [7] [8] [9] and the development of the T-tubule system of the muscle [10] A defect in the DYSF gene, located on chromosome 2p12-14, results in several types of muscular dystrophy ...
In a study of 13 individuals with facioscapulohumeral muscular dystrophy (FSHD), none of the individuals complained of pain. Fatigue, however, was a common characteristic and all had noted that there were limitations in their activities of daily life. [3]