History lesson raises awareness of Duchenne muscular dystrophy

Published Date
10/03/2011
Author
Muscular Dystrophy UK
Category
Research
Prof. Alan Emery

Long-term supporter of the charity Professor Alan Emery gave a fascinating lecture at the Royal Society of Medicine last night about the doctors who first described Duchenne muscular dystrophy. The lecture was attended by over 50 clinicians and other health professionals and was based on the book written by Prof. Emery and his wife Marcia called “The History of a Genetic Disease. Duchenne Muscular Dystrophy or Meryon’s Disease“.  The Muscular Dystrophy Campaign, Genzyme and Oxford University Press sponsored the event.

Professor Emery, a keen artist himself, started his talk with ancient paintings which depicted boys that looked like they might have had Duchenne muscular dystrophy. The first breakthrough though, was in the 1850s when an English doctor called Edward Meryon studied six families affected by the condition and published several papers. He carefully described the symptoms and was able to determine that it was a disease of the muscle, not the nerves or spinal cord. Using microscopes that had recently been improved he worked out what part of the muscle cell was being affected – the sarcolemma. He also discovered that Duchenne muscular dystrophy only affected boys and is passed down by the mother. This was an amazing achievement considering there was no understanding of genetics at the time.

Duchenne muscular dystrophy got its name from the French doctor Guillaume Duchenne who described the condition a decade later. Although Meryon’s contribution to medicine and science is unlikely to result in a change of name for the condition, his achievements are now recognised by this book, a plaque that Alan and his wife arranged to have placed on his former home in London and his inclusion in the Oxford Dictionary of National Biography. A Society dedicated to the history of neuromuscular disorders also holds an annual lecture entitled The Meryon Society Lecture.

Once the field of genetics had advanced and the structure of DNA solved in 1953, scientific breakthroughs for Duchenne muscular dystrophy followed. The gene and protein that is affected – dystrophin – was identified in 1980s, potential therapies developed in the laboratory in the 1990s and the first clinical trials started in 2000.

About Professor Alan Emery

Professor Alan Emery qualified as a doctor in 1960 after military service and developed an interest in muscular dystrophy while pursuing post-graduate research in Baltimore, USA. He went on to be the first to describe Emery-Dreifuss muscular dystrophy. Prof. Emery also developed the creatine kinase test in 1964 which is still used today to diagnose muscle disease. In 1989 he set up the European Neuromuscular Centre (ENMC), the highly successful organisation that funds and organises workshops to encourage collaboration amongst international scientists and clinicians. He published over 400 scientific papers during his career and several books including “Muscular dystrophy: the facts” a book for patients and families. Proceeds from the sale of this book go to the Muscular Dystrophy Campaign.

Prof. Alan Emery was a member of the Muscular Dystrophy Campaign’s Medical Services Committee for many years and continues to be a vice president of the charity.

Read more about Prof. Alan Emery in Target Research magazine issue 1 and issue 3.

Further information and links

Alan and Marcia’s books are available from Oxford University Press:

  • The History of a Genetic Disease. Duchenne Muscular Dystrophy or Meryon’s Disease
  • Muscular dystrophy: the facts

Read about the phase 3 clinical trial for Duchenne muscular dystrophy.

More information about Duchenne muscular dystrophy.

Read about the Duchenne muscular dystrophy research we fund.

It is only through your contributions that we can continue to fund the vital work that takes us closer to finding treatments and cures for muscle disease. Donate now and help change the lives of thousands of people living with muscle disease.

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