However, DMD is named after the French neurologist Guillaume-Benjamin-Amand Duchenne (1806–1875), who in the 1861 edition of his book Paraplegie hypertrophique de lenfance de cause cerebrale, described and detailed the case of a boy who had this condition. A year later, he presented photos of his patient in his Album de photographies pathologiques. In 1868, he gave an account of 13 other affected children. Duchenne was the first to do a biopsy to obtain tissue from a living patient for microscopic examination. Notable cases
Alfredo ("Dino", "Alfredino") Ferrari (born January 1932 in Modena), the son of Enzo Ferrari, designed the 1.5 L DOHC V6 engine for the model F2 at the end of 1955. But Dino never saw the engine produced:  he died on 30 June 1956 in Modena at the age of 24, before his namesakes Dino and Fiat Dino were made.Rapper Darius Weems had the disease and used his notoriety to raise awareness and funds for treatment. He died at the age of 27 (his brother also had the disease, until his death at the age of 19). The film Darius Goes West documents Weemss journey of growth and acceptance of having the disease.Jonathan Evisons novel, The Revised Fundamentals of Caregiving, published in 2012, depicted a young man affected by the disease. In 2016, Netflix released The Fundamentals of Caring, a film based on the novel.
Cause
DMD is caused by a mutation of the dystrophin gene, located on the short arm of the X chromosome (locus Xp21) that codes for dystrophin protein. Mutations can either be inherited or occur spontaneously during germline transmission, causing to a large reduction or absence of dystrophin, a protein that provides structural integrity in muscle cells. Dystrophin is responsible for connecting the actin cytoskeleton of each muscle fiber to the underlying basal lamina (extracellular matrix), through a protein complex containing many subunits. The absence of dystrophin permits excess calcium to penetrate the sarcolemma (the cell membrane). Alterations in calcium and signalling pathways cause water to enter into the mitochondria, which then burst.In skeletal muscle dystrophy, mitochondrial dysfunction gives rise to an amplification of stress-induced cytosolic calcium signals and an amplification of stress-induced reactive-oxygen species production. In a complex cascading process that involves several pathways and is not clearly understood, increased oxidative stress within the cell damages the sarcolemma and eventually results in the death of the cell. Muscle fibers undergo necrosis and are ultimately replaced with adipose and connective tissue. DMD is inherited in an X-linked recessive pattern. Females typically are carriers of the genetic trait while males are affected. A female carrier will be unaware she carries a mutation until she has an affected son. The son of a carrier mother has a 50% chance of inheriting the defective gene from his mother.