Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) was discovered in the 1860s by a French neurologist, but not much was known about the disease until the 1980s, when it was discovered that a lack of a protein known as dystrophin was the primary cause of this hereditary disease. Duchenne muscular dystrophy sets in early, around the ages of 3 and 5, affecting boys more often than girls. DMD is caused by an X-linked recessive inheritance pattern, where the mother is the carrier.
Symptoms usually start with muscle weakness around 3 years old. The first muscles affected are the hips and pelvis. From there, the thighs and shoulders become weak, and gradually all skeletal muscles are affected. The calves are usually enlarged. Around the teenage years, the heart and respiratory muscles become weak.
For many years, boys who were diagnosed with DMD did not survive long past their early teenage years. However, medical and technological advancements have increased survivability for those with Duchenne muscular dystrophy. More and more young adults with DMD are surviving into their 30s, 40s, and 50s, giving them the chance to live more of their lives. Some even have children of their own.
