Muscular dystrophy; what you need to know

September is the National Muscular Dystrophy Awareness Month and it seems appropriate to take a closer look today at this so-called rare disease, which affects one in 50,000 people.

There are about thirty different kinds of muscular dystrophies. Those who suffer from it, lose muscle volume and muscle atrophy ensues thereafter.

Muscular dystrophy is a genetic disease, it means a gene required for the proper functioning of the muscles is defective. It’s a so-called recessive gene most of the time, which means that genes from both parents must be affected for the disease to develop.

The most well-known type of the disease is called Duchenne muscular dystrophy, caused by the absence of a gene, dystrophin, of which the production is essential to maintain muscle fibres. The lack of this protein being produced leads to the progressive degeneration of all skeletal muscles.

Currently, there is no cure for Duchenne or Becker’s muscular dystrophy, which is also quite common. Patient care (physiotherapy, occupational therapy, rehabilitation) is essential for maintaining a certain autonomy and quality of life for as long as possible. In certain cases, orthotic intervention can also help with posture and balance.

The life expectancy of people afflicted by Duchenne muscular dystrophy is 36 years, and 45 years for Becker, specific treatments (such as corticosteroid therapy) do make it possible to delay muscular loss.

There is hope however, since neuromuscular diseases are being highly researched right now. We’re seeing exemplary progress, including the arrival of new treatments and even clinical trials in Canada!