What is Duchenne Muscular Dystrophy? What you need to know about the lethal disorder

Of late, instances abound online of awareness being created over Duchenne Muscular Dystrophy or DMD which is an inherited disorder of progressive muscular weakness in boys. While there have been numerous cases of DMD all around the world, there are many who are still unaware of the disorder and how it affects the body with sometimes fatal conditions. Also important to note is the high cost of treatment entailed.

What is Duchenne Muscular Dystrophy?

Duchenne Muscular Dystrophy is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene that result in absent or insufficient functional dystrophin, a cytoskeletal protein that enables the strength, stability, and functionality of myofibers.

Progressive muscular damage and degeneration occur in people with MD, resulting in muscular weakness, associated motor delays, loss of ambulation, respiratory impairment, and cardiomyopathy. Although the clinical course of skeletal muscle and cardiac involvement can be variable, death usually occurs as a result of cardiac or respiratory compromise. 

Treatment for Duchenne Muscular Dystrophy

In a DMD child, there is a stage of ambulation after diagnosis followed by a non-ambulatory stage. In the non-ambulatory stage complications involving the cardiac muscles, respiratory muscles, spine and bones start appearing.

Treatments such as low-dose steroids, cardiac protective medications, physiotherapy, splints and respiratory exercises have a role in treatment at this stage. Exon 53 skipping (Vondys 53 or Viltepso) is not a cure for MD but potentially could lessen the severe muscle weakness and atrophy that is the hallmark of this disease. At present apart from steroids, these are the only commercially available treatment options in the world. 

The treatment needs to begin as soon as the disease gets diagnosed and needs to be continued for a lifetime, which currently entails a high cost. 

The parents of 11-year old Ayaan Jariwala, who was diagnosed with DMD when he was four-years old and stopped in the middle of a race during sports day in his school, speak about how it proceeded to become more and more difficult for him to participate in classroom learning while simultaneously developing into a keen observer and self-learner. 

Suhana & Zubair Jariwala write, "At age 8, after a few months of setback due to his illness he lost interest in art, it took us nearly 6 months to bring him back as a happy child. After a trip to Kenya, he magically revived his inner artist again."

Ayaan created 50-60 drawings in a period spanning a year and prefers to sketch when it's close to bed-time, for which his parents are ready with sketch-pens and colours on his bed-side. 

"For us, his artwork manifests his love for the world and life, a love that spreads out to whoever sees it."

Image: Unsplash