Classification Of Spinal Muscular Atrophy Essay Assignment Paper

The term spinal muscular atrophy (SMA) refers to a group of genetic disorders characterized by degeneration of anterior horn cells and resultant muscle atrophy and weakness.

The incidence of SMA is 1 in 11,000 live births. Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality and is characterized by proximal muscular weakness. The prevalence of the carrier state is approximately 1 in 54.

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Spinal muscular atrophy was originally described in 2 infant brothers by Guido Werdnig in 1891 and in 7 additional cases by Johan Hoffmann from 1893 to 1900.Although the eponym Werdnig-Hoffmann disease eventually became affixed to the severe infantile form of SMA, their cases actually were of intermediate severity; the first descriptions of severe infantile SMA were made by Sylvestre in 1899 and Beevor in 1903.A milder form of SMA in which patients retained the ability to stand and walk, with prolonged survival, was not formally described until the 1950s by Wohlfart, Fez, and Eliasson and then in more detail by Kugelberg and Welander.

All of these descriptions recognized and emphasized the seminal pathology as anterior horn cell degeneration as well as the pertinent clinical features of symmetrical, proximal predominant extremity weakness that also affects axial, intercostal, and bulbar musculature.Classification Of Spinal Muscular Atrophy