What is the history of Duchenne muscular dystrophy?

Muscular dystrophy was first described in 1830 by Sir Charles Bell, but it wasn’t until 1868 that the French neurologist Guillaume Benjamin Amand Duchenne reported in detail on 13 boys affected by a severe progressive muscle weakness — a disease that later became known as Duchenne muscular dystrophy (DMD).

From the earliest case reports to life-changing therapies, here is how science’s understanding of DMD has changed over the centuries.

The 1800s: First descriptions

1830: Sir Charles Bell, a Scottish surgeon whom Bell’s palsy is named after, first described a disease that involved progressive muscle weakness in boys.

1836: Two Italian doctors, Dr. Gaetano Gioja and Dr. L Conte, reported on two brothers with progressive muscle weakness and enlarged calves.

1852: Dr. Edward Meryon, an English doctor, described four brothers with progressive muscle weakness. He noted that mechanical supports (called “irons”) were used to help the oldest boy walk, and muscle fibers taken during an autopsy appeared damaged when examined under a microscope.

1865: Dr. Wilhelm Griesinger, a German doctor, published a case report regarding the first muscle biopsy taken while a patient with DMD was alive.

1868: Dr. Guillaume Benjamin Amand Duchenne, or Duchenne de Boulogne, wrote a comprehensive report of 13 boys with severe progressive muscle weakness. He was the first to recognize DMD as a primary disease of muscle and create a thorough outline of its clinical features.

1870s: Sir William Richard Gowers presented DMD cases in lectures at hospital and universities. His observations on how one patient got up from the floor led to the naming of Gowers’ maneuver.

The 1950s to 1980s: Building an understanding

1950s: Dr. Emil Becker, a German doctor, identified Becker muscular dystrophy (BMD), a less severe type of DMD.

1974: Corticosteroids were first used by Drachman et al to improve muscle strength and function

1986: Researchers identified the gene on the X chromosome that caused DMD when it mutated. The DMD gene was first cloned by Dr. Michael Koenig a year later.

Early 1980s: Non-invasive ventilation begins to be used, greatly improving life expectancy.

1987: The protein associated with the DMD gene was identified and named dystrophin.

Learn more: What genetic changes cause DMD?

1990s to today: New treatment frontiers

Early 1990s: Clinical trials of corticosteroids conducted at specialized centers. Within a decade, they become standard treatment.

1996: Adeno-associated virus (AAV) gene therapy first used to deliver a gene to a muscle cell.

2007: Cardiac problems first treated with preventative ACE inhibitors, later becoming standard treatment.

2016: The first exon-skipping therapy, eteplirsen (Exondys 51), was approved by the FDA, marking an important scientific advance in treatment: This therapy allows for the creation of a shorter dystrophin protein in patients who are amenable to exon 51 skipping.

2017: Corticosteroid deflazacort (Emflaza) approved by FDA for DMD.

2019-2021: More exon skipping therapies are approved: golodirsen (Vyondys 53) in 2019, viltolarsen (Viltepso) in 2020 and Casimersen (Amondys 45) in 2021.

2023: Corticosteroid vamorolone (Agamree) approved by the FDA specifically for DMD.

2024: Adeno-associated virus vector-based gene therapy delandistrogene moxeparvovec (Elevidys), is approved. This one-time treatment delivers a “micro-dystrophin” gene to the body.

The takeaway

A greater understanding of the genetic origins of Duchenne has led to significant breakthroughs. In recent years, genetic testing has meant families have a much earlier awareness of DMD, and therapeutics developments mean more treatment options are available than ever before.

While there is still no cure, ongoing clinical trials continue to explore new, innovative ways of treating DMD and improving daily life for the boys and men living with the disease.

Learn more: “What you should know about experimental therapies for DMD”