What were the first historical accounts of muscular dystrophy?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Answer

The first historical account of MD was reported by Conte and Gioja in 1836. [1] They described two brothers with progressive weakness starting at age 10 years. These boys later developed generalized weakness and hypertrophy of multiple muscle groups, which are now known to be characteristic of the milder Becker MD. At the time, however, many thought that Conte and Gioja described tuberculosis; thus, they did not achieve recognition for their discovery.

In 1852, Meryon [2] reported in vivid details a family with four boys, all of whom were affected by significant muscle changes but had no central nervous system abnormality when examined at necropsy. Meryon subsequently wrote a comprehensive monograph on MD and even went on to suggest that a sarcolemmal defect was at the root of the disorder. He further suspected that the disorder is genetically transmitted through females and affects only males.

Guillaume Duchenne was a French neurologist who was already famous for his application of faradism (the use of electric currents to stimulate muscles and nerves) to the treatment of neurologic disorders when he wrote about his first case of MD. [3] In 1868, he gave a comprehensive account of 13 patients with the disease, which he called "paralysie musculaire pseudo-hypertrophique." Because Duchenne was already held in high esteem for his work in faradism and for his contributions to the understanding of muscle diseases, one of the most severe and classic forms of MD, Duchenne MD, now bears his name.


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