Muscular Dystrophy: Historical Background and Types

There is no consensus as to who was first to describe MD. One account of MD appeared in 1830, when Sir Charles Bell (1774–1842) wrote about an illness that caused progressive weakness in boys. Other sources point to Giovanni Semmola’s publication in 1834 and a Semmola publication in conjunction with Gaetano Conte in 1836. Another account was given by Conte and Gioja in 1836, describing two brothers with progressive muscle weakness. In 1852, Dr. Edward Meryon (1809–1880) described a family with four boys, all affected by significant muscle changes. The French neurologist, Guillaume Benjamin Amand Duchenne, MD (1806–1875), wrote about his first case of MD in 1861. In 1868, he gave a comprehensive account of 13 patients with MD. One of the most severe and well-known forms of MD, Duchenne MD, now bears his name. There are at least nine major types of MD: Duchenne, Becker, congenital, distal, Emery–Dreifuss, facioscapulohumeral (FSHD), limb-girdle, myotonic dystrophy, and oculopharyngeal. MD can be inherited in three ways: (1) autosomal inheritance (from a normal gene from one parent and an abnormal gene from another parent), (2) autosomal recessive inheritance (both parents carry and pass on the faulty gene), and (3) X-linked recessive inheritance (when a mother carries the affected gene and passes it on to her child). While widely reported as the third most common genetic disease of skeletal muscle, a 2008 analysis of rare diseases listed FSHD as the most prevalent form of MD at 7/100,000.

Authors and Affiliations

1. Biosimilars Center of Excellence, Quintiles Inc., 4820 Emperor Boulevard, Durham, NC, 27703, USA

   Raymond A. Huml M.S., D.V.M., R.A.C.

Corresponding author

Correspondence to Raymond A. Huml M.S., D.V.M., R.A.C. .

Editors and Affiliations

1. Biosimilars Center of Excellence, Quintiles, Inc., Durham, North Carolina, USA

   Raymond A. Huml

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