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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 ]
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]
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).
100288687 n/a Ensembl ENSG00000260596 ENSG00000283949 n/a UniProt Q9UBX2 n/a RefSeq (mRNA) NM_001205218 NM_001278056 NM_001293798 NM_001306068 NM_001363820 n/a RefSeq (protein) NP_001280727 NP_001292997 NP_001350749 n/a Location (UCSC) Chr 4: 190.17 – 190.19 Mb n/a PubMed search n/a Wikidata View/Edit Human Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the ...
Muscular dystrophy; In affected muscle (right), the tissue has become disorganized and the concentration of dystrophin (green) is greatly reduced, compared to normal muscle (left).
Sunil Pradhan (born 25 June 1957) is an Indian neurologist, medical researcher and writer, known for the invention of two electrophysiological techniques. He has also described five medical signs, of which one related to Duchenne muscular dystrophy is known as Pradhan Sign, [1] [2] and the others associated with facioscapulohumeral muscular dystrophy (FSHD) and similar neuro diseases. [3]
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).
The organization was founded in 1950 by a group with personal connections to muscular dystrophy, including Paul Cohen who lived with Facioscapulohumeral muscular dystrophy (FSHD). [9] Originally known as the Muscular Dystrophy Associations of America, it was renamed to its present name in the 1970s. [7]