Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy, commonly referred to as DMD, is a terminal progressive muscle wasting genetic disorder. It affects many parts of the body, which results in deterioration of the skeletal, cardiac (heart), and pulmonary (lung) muscles.
There is currently no cure for DMD and it affects approximately 1 out of every 5,000 live male births. It is extremely rare for a female to have DMD. About 20,000 children are diagnosed with Duchenne globally each year. Historically, it has been characterized as a childhood disease due to the short life span of the patients. Therefore many of the medical professionals who traditionally treat adults have limited knowledge of DMD and how to treatment their patients. As recent as the 1970s, a patient with DMD had an average life span of 16 years old. Today, due to better treatment, due to use of steroids and cardiac management, the life span has been increased into adult years.
The natural history of a Duchenne patient:
- Diagnoses at 4 - 6 years old due to noticeable difficulty walking, running and jumping when compared to peers.
- Enlarged calves and walking on the toes.
- 9 to 14 years old, loss of ambulation and confinement to a wheelchair.
- Teen years, severe muscle weakness and Scoliosis.
- Teen years, the onset of scarring of the heart and loss of function.
- Late teen years, loss of the ability to feed oneself and limited use of upper body limbs.
- Late teen years and early 20's, severe scarring of the heart and loss of function.
- Late teen years and early 20's, pulmonary muscles weakness that develops into trouble breathing. Ventilator required for breathing.
- Early to mid 20's, limited use of much of the body, severe cardiac and pulmonary loss of function.
- The average life span has been expanded to 24 years old.