Duchenne Muscular Dystrophy (DMD) is the most recognized type of muscular dystrophy. It results from a mutation in a gene on the X chromosome that halts the production of dystrophin, a crucial muscle protein. Primarily affecting boys and very rarely girls, DMD usually presents itself between the ages of two and five with weakness in the upper and lower limbs, leading to clumsiness, frequent falls, a distinctive gait, and overall muscle weakness. Some individuals may also experience mild cognitive challenges. As the disease progresses, the use of a wheelchair often becomes necessary. Most individuals with DMD succumb to muscle-related respiratory and cardiac complications in their early twenties. Although there is currently no cure, treatments focus on alleviating symptoms, such as aiding mobility, preventing scoliosis, and administering respiratory therapy. Research into gene replacement with dystrophin minigenes is ongoing, but a cure is not yet imminent.The DMD Gene:Muscular dystrophies caused by dystrophin deficiencies vary significantly in severity, from the severe form (DMD) to the much milder Becker Muscular Dystrophy (BMD). DMD and BMD arise from different mutations within the large gene that codes for dystrophin. This gene consists of 79 exons and spans over 2,300 kilobases. Deletions result in a deficiency of one or more exons, which might explain the cognitive impairments sometimes seen in DMD patients, as clinical symptoms differ based on which parts of the gene are deleted. The DMD gene encodes a protein made up of 3,685 amino acids. The structure of dystrophin resembles that of spectrin and other cytoskeletal proteins, akin to an I-beam with globular domains at both ends, connected by a rod-like segment in the center.History:The disease is named after Guillaume Benjamin Amand Duchenne, a pioneering French neurologist of the 19th century. After completing his medical education, Duchenne worked in the provinces before returning to Paris in 1842 to pursue medical research. To avoid confusion with a prominent society physician named Édouard Adolphe Duchesne, he became known as Duchenne de Boulogne. Renowned for his meticulous clinical investigations, Duchenne diligently documented patient histories and followed his subjects across various hospitals to enrich his research, surpassing the resources available to individual physicians or hospitals. In 1861, he described a boy with the muscular dystrophy now named after him in his book "Paraplegie hypertrophique de l'enfance de cause cerebrale." A year later, he captured his patient's condition in his "Album de photographies pathologiques." In 1868, he reported on 13 affected children using the term "paralysie musculaire pseudohypertrophique," which became synonymous with this type of dystrophy. Duchenne was the first to conduct a biopsy on living tissue for microscopic examination, sparking public debate about the ethics of studying living tissues. He used this technique on boys with DMD, correctly identifying the disease as a muscular disorder.
