Reports vary, so there is no consensus as to who should be recognized as the first person to describe muscular dystrophy (MD). As Dr. Corrado Angelini rightly points out, “There is still controversy as to who should be given priority for the first description of MD.” Further, he states that “The problem is confounded by the fact that it is now recognized that MD is not a single disease, but rather a heterogeneous set of diseases with different clinical phenotypes, pathological substrates, and both molecular and genetic determinants” [1].

According to the National Institute of Neurological Disorders and Stroke (NINDS) [2], the first historical accounts of MD appeared in 1830, when Sir Charles Bell (1774–1842) wrote an essay about an illness that caused progressive weakness in boys. Other sources point to Giovanni Semmola’s publication in 1834 and later, a Semmola publication in conjunction with Gaetano Conte in 1836 [3].

The 1834 Semmola reference was his description of two boys affected by a previously undescribed disorder (in 1829), which he referred to as having the most noticeable sign of “muscular hypertrophy” [4].

According to Medscape [5], the first historical account of MD was given by Conte and Gioja in 1836 [6]. They described two brothers with progressive muscle weakness starting at age 10 and later developing 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 were describing tuberculosis; thus, they did not achieve recognition for their discovery.

In 1852, Dr. Edward Meryon (1809–1880) reported a family with four boys, all of whom were affected by significant muscle changes, but no central nervous system abnormalities [7]. Meryon wrote a monograph on MD, suggesting a sarcolemmal defect as the cause of the disorder and suggesting that the disorder was genetically transmitted through females and affected only males.