When and How Was SMA First Discovered?
Spinal Muscular Atrophy was first discovered in 1891 by Austrian neurologist Guido Werdnig, who reported two infant brothers with progressive muscle weakness and degeneration of the anterior horn cells in the spinal cord. Later, German neurologist Johann Hoffmann described additional cases between 1893 and 1900, helping establish what became known as Werdnig-Hoffmann disease, a severe infantile form of SMA.
The early discovery of Spinal Muscular Atrophy came through clinical observation and examination after death, long before modern genetic testing, newborn screening, or disease-modifying treatments existed. Doctors noticed that affected children had severe muscle weakness, poor movement, and muscle wasting, but the key finding was that the problem began in the nerve cells of the spinal cord rather than only in the muscles themselves. SMA was first reported by Werdnig in 1891 and later by Hoffmann in 1893, with later physicians recognizing that the severity of muscle weakness could vary.
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