Duchenne Muscular Dystrophy (DMD): A Rare Disease Which Causes The Heart To Stop Working
By: Milton, Diamond
Published On: August 07, 2021
Duchenne muscular dystrophy (DMD) is a rare muscle disorder that affects approximately 1 in 3,500 children worldwide. There are more than ten lakh children who are currently suffering from DMD in India.
More often than not, this disease is known to affect male children, many of whom have an average life expectancy extending to as little as 25 years - if they are lucky, that is. Some children don’t even make it that far. However, advancements in medicine have presented us with some hope. More recent research shows that children with DMD can now live a relatively better life till the age of 40 and more. For parents of these young patients, this is the miracle that they were praying for all this while.
Let’s take a closer look to understand DMD, its symptoms and possible treatment, better:
What is DMD?
- DMD is a genetic disorder that causes progressive muscle degeneration and weakness due to mutations in a protein called dystrophin which helps keep muscle cells intact.
- To put it simply, a child with DMD faces muscle weakness and atrophy in the hips, pelvic area, thighs, shoulders, and calves due to the body’s failure to produce dystrophin.
- Eventually, DMD also affects the skeletal and heart muscle, leading to fatal consequences.
Symptoms of DMD
- Children with DMD usually start showing symptoms between the ages of 2 and 3. They may find it difficult to jump, run and even walk. They may also have swollen calves (from fat and scar buildup) and a curved spine due to weak back muscles.
- Children with DMD have reduced bone density which puts them at an increased risk of developing fractures of certain bones, such as hips and spine.
- They may also display mild to moderate levels of learning disabilities like autism.
Why is it more predominant in males?
- The dystrophin gene is located on the X chromosome.
- Males have one copy of the X chromosome and one copy of the Y chromosome. Whereas, females have two copies of the X chromosome.
- Males get DMD when there is a mutation in the dystrophin gene because the Y chromosome doesn’t produce the dystrophin gene.
- Females have two copies of the X chromosome, if there is a mutation, they have a second backup copy to produce the dystrophin gene.
Hence, DMD is seen far more often in boys than in girls. However, girls can still be carriers of the disease without showing any symptoms of DMD.
What are the treatments available for DMD and what is the cost?
One of the available therapies in the global market is called antisense oligonucleotide (AON), developed by the US and European pharmaceutical companies.
Eteplirsen (Exondys 51)
Exondys 51 uses exon-skipping technology to help a DMD patient produce a shorter form of the dystrophin gene. However, this drug depends on the patient’s genetic sequence. This simply means that the drug won’t work for all children. The cost of the drug is usually between Rs 2-3 crore per year to treat one child.
This drug uses the same exon-skipping technology mentioned above. It was recently approved by the US FDA in 2020. The drug therefore has to be imported and administered for a period of one year. Its cost is around Rs 4 crore in India.
Physiotherapy and steroids are regularly needed alongside both these treatments.. While it is considered a lifelong condition, these treatments have helped in slowing down the progression considerably and increasing the lifespan of children with DMD.
How can crowdfunding help in such a situation?
Affording treatments worth crores of rupees can be impossible for most families in India. With the advent of online crowdfunding platforms in India many people have been able to raise funds for their medical treatments. Families have raised amounts worth crores for rare diseases and disorders such as SMA as well as DMD on ImpactGuru’s crowdfunding platform. This has been possible with the help of kind and generous donors from around the world who wanted to do what they could to help these families during their time of need.
DMD in India requires more awareness so that early diagnosis and subsequently, early treatment can be made possible for these young children. This not only improves their chances but also ensures that they don’t live more years of their lives in pain. While there is a conversation around DMD happening in India, this dialogue also needs to translate into actions where steps are taken to make the treatment easily available and accessible in India.
Many parents have started a fundraiser to raise funds for DMD on ImpactGuru as crowdfunding allows them to get treatment at the earliest and not waste precious time running around for what can seem like an impossibly large amount of money. Below is one such story:
Help Shrey Fight Fatal DMD
Shrey Ratambe is a 5-year-old kid from Mumbai. At school, he couldn’t run or play like his classmates no matter how hard he tried. A few months and many check ups later, he was diagnosed with DMD.
Today, he walks with the support of leg braces and no matter how many times he falls, is convinced that one day he will be able to walk without any support. . While his hope and courage is heart-warming, the reality is that his muscles have become very weak. The medical steroids have shrunk his muscles. He needs to go through physiotherapy every single day.
Dystrophy Annihilation Research Trust (DART) has proposed a trial for him. They’ll use the Exon 51 skipping technology for the trial. It will cost around Rs 2.5 crore. The Trust and his family are hopeful for Shrey’s future.
If you want to support them, you can donate to or share their fundraiser here.