What is Muscular Dystrophy?

Muscular Dystrophy (MD) is a group of genetic diseases that cause progressive weakening and wasting of the muscles. People with MD have incorrect or missing information in their genes, preventing or inhibiting the production of proteins needed for healthy and normal functioning muscle. Some people who have Muscular Dystrophy will eventually lose the ability to walk. Some may have trouble breathing or swallowing. MD is a hereditary disease and people are born with the disorder. There is currently no cure for Muscular Dystrophy, though for now medications and therapy can help manage symptoms and slow the course of the disease.

 

Duchenne Muscular Dystrophy (DMD)

The most common and severe form of MD is Duchenne Muscular Dystrophy (DMD). It is caused by a mutation in the gene for the protein dystrophin. The lack of dystrophin production leads to muscle fibre damage and a gradual deterioration of the muscles. Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms. Most are unable to walk and restricted to a wheelchair by the age of twelve. The disease predominately affects boys as the Duchenne gene is found on the X-chromosome, with some rare cases affecting girls. Approximately 1 in every 3,500 new born boys have Duchenne or approximately 50 births each day. The disease occurs across the world through all races and cultures.

 

Timeline and Complications of DMD

As individuals with DMD slowly grow weaker they begin to lose the ability to perform many day to day functions and require increased care and support. Below is an approximate timeline with some of the complications that may occur over the course of the disease.

Age 3+

Typically at around the age of 3 or 4, children with DMD display the first symptoms of muscle weakness which proceeds to worsen quickly. Speech delay and/or the inability to keep up with peers will often be the first signs of the disorder.

Age 5 - 8 Years

Individuals will move slower than others their age as flexibility and strength continue to deteriorate. Because of this, they will fatigue more easily and require more assistance and care. Support may be needed for the legs and ankles. At night the use of ankle splints, or a longer brace called a knee-ankle-foot orthosis (KAFO). Treatments with medication called corticosteroids (or steroids) can help to maintain the child's muscle strength for some time.

Age 8 to Late Teenage Years

Strength continues to fade and walking becomes more and more difficult. The first signs of heart trouble will arise as well as breathing issues. Additional equipment, therapy and medications will be required to manage these complications. Though it doesn't stop there, joint and bone problems will begin to manifest requiring regular check-ups and the need for in-home support. Eventually with the increase in weakness and fatigue, the use of a wheelchair will be needed and later, a power wheelchair as a permanent means of transport. Below are some further complications which progress as time moves forward.

  • Joint and spinal complications
  • Osteoporosis
  • Nutrition and digestion
  • Chest and breathing problems
  • Heart (cardiac) complications

Late Teenage Years to 20's

Life threatening heart and respiratory conditions occur more frequently. Typically all individuals are restricted to power wheelchairs to get around and hoist type equipment to get in/out of bed. The use of a tracheotomy tube to help with breathing becomes a common requirement.