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Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSH) was first described by Landouzy and Dejerine in 1885, and was therefore named after them. Duchenne had published a photograph of a typical FSH patient in 1862, but the disease still became known as Landouzy-Dejerine disease. From the beginning, FSH was recognized as an autosomal dominant disorder. This was confirmed in 1950 by Tyler and Stephens, who conducted a large study based upon records from the Mormon Church in Salt Lake City, Utah.

The exact nature of the disease was a topic of heated debate for many years. The controversy centered around whether the muscle weakness and wasting was primarily from a neuropathic or myopathic cause. The debate was eventually settled in favor of a myopathic etiology, and in 1954 Walston and Nattrass included FSH as one of the three categories of muscular dystrophy, along with Duchenne MD and Limb-Girdle MD. FSH has survived as a distinct clinical entity, which was confirmed by the discovery that it is a distinct, genetic disorder as well.