Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today we focus on Duchenne Muscular Dystrophy (DMD)—a genetic disorder that leads to progressive muscle weakness and loss of mobility in children.
Under the leadership of Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of the leading medical geneticists in India, our center has helped many families understand, diagnose, and manage Duchenne Muscular Dystrophy and other inherited neuromuscular disorders.
What is Duchenne Muscular Dystrophy (DMD)?
Duchenne Muscular Dystrophy is a genetic condition that primarily affects boys and leads to progressive muscle weakness. It is caused by mutations in the DMD gene, which is responsible for producing dystrophin—a crucial protein that keeps muscles strong and functioning properly.
Without dystrophin, muscle fibers gradually break down, leading to:
✔ Delayed motor milestones – Late walking, frequent falls, and difficulty climbing stairs
✔ Progressive muscle weakness – Starts in early childhood and worsens over time
✔ Loss of mobility – Most children require a wheelchair by their early teens
✔ Heart and breathing problems – The muscles that support the heart and lungs weaken over time
✔ Mild to moderate learning difficulties – Some children may have challenges with memory and attention
Since DMD symptoms begin early in life, early detection and intervention are crucial for improving mobility and overall quality of life.
Our Experience with Duchenne Muscular Dystrophy at Our Center
Families often seek medical attention when they notice:
🔹 Their child is not walking as expected (delayed milestones)
🔹 Frequent falls or difficulty running and climbing
🔹 Waddling gait or walking on toes
🔹 Enlarged calves (pseudohypertrophy) but weak leg muscles
At our center, we provide:
✅ Genetic testing to confirm DMD diagnosis
✅ Genetic counselling to assess family risk and recurrence in future pregnancies
✅ Medical management plans, including physiotherapy and supportive care
✅ Guidance on steroid treatments and emerging therapies
Since DMD is caused by a mutation in the DMD gene, genetic testing is the only way to confirm the diagnosis. The best available test for DMD costs around ₹6,000 (as of February 2025), and results typically take two to four weeks.
With the right medical care, physical therapy, and emerging treatments, children with DMD can live longer, healthier, and more fulfilling lives.
Advances in Medical Genetics & Management of Duchenne Muscular Dystrophy
While there is no cure for Duchenne Muscular Dystrophy yet, scientific advancements and early interventions have significantly improved life expectancy and quality of life.
🔹 Steroid therapy – Slows muscle degeneration and helps maintain strength
🔹 Physiotherapy and assistive devices – Helps improve mobility and prevent contractures
🔹 Cardiac and respiratory care – Monitoring heart and lung health for long-term well-being
🔹 Gene therapy and exon-skipping treatments – Promising new approaches in clinical trials
New breakthroughs, such as gene-editing technologies and exon-skipping drugs, offer hope for future treatments that may help slow down the disease progression.
Frequently Asked Questions (FAQs) on Duchenne Muscular Dystrophy
💡 What causes Duchenne Muscular Dystrophy?
DMD is caused by a mutation in the DMD gene, which prevents the production of dystrophin, a protein essential for muscle function. Without dystrophin, muscle fibers gradually weaken and break down.
💡 Is Duchenne Muscular Dystrophy inherited?
Yes, DMD follows an X-linked recessive inheritance pattern, meaning mothers can be carriers of the gene mutation and pass it on to their sons. In about 30% of cases, the mutation happens spontaneously, meaning there is no family history.
💡 Can Duchenne Muscular Dystrophy be diagnosed before birth?
Yes. If there is a family history of DMD, genetic testing can be done:
✔ Carrier screening for the mother before conception
✔ Prenatal genetic testing through chorionic villus sampling (CVS) or amniocentesis to check if the baby has the mutation
💡 Can children with Duchenne Muscular Dystrophy live long lives?
With advancements in medical care, physical therapy, and assistive technologies, children with DMD are living longer and more fulfilling lives than ever before. In the past, many children with DMD did not live beyond their teens, but with proper care, life expectancy has now increased into the 30s or beyond.
💡 Are there any new treatments for Duchenne Muscular Dystrophy?
Yes! Several cutting-edge treatments are currently being studied and used:
✔ Steroid therapy – Slows down muscle deterioration
✔ Exon-skipping therapy – A precision medicine approach that helps some patients produce partially functional dystrophin
✔ Gene therapy trials – Ongoing research aims to restore dystrophin production
While a complete cure is not yet available, ongoing research offers hope for better treatments in the near future.
💡 Can Duchenne Muscular Dystrophy occur again in a future pregnancy?
If a mother is a carrier of the DMD gene mutation, there is a 50% chance of passing it on to her sons. To assess the risk, we recommend:
✔ Carrier testing for mothers to determine if they carry the mutation
✔ Prenatal genetic testing (CVS or amniocentesis) in future pregnancies
✔ Preimplantation Genetic Diagnosis (PGD) for couples undergoing IVF to select unaffected embryos
Genetic Testing and Counselling for Duchenne Muscular Dystrophy
At our center, under the expertise of Dr. Roshan Daniel, we provide comprehensive genetic evaluations for families affected by Duchenne Muscular Dystrophy. Our services include:
✔ Genetic testing for DMD and related neuromuscular disorders
✔ Carrier screening for families planning pregnancy
✔ Prenatal genetic testing & counselling
✔ Personalized medical management plans
✔ Online genetic consultations for remote patients
If you have concerns about muscle weakness, delayed milestones, or a family history of DMD, consider genetic testing and expert guidance.
Join Us in Spreading Awareness!
Duchenne Muscular Dystrophy is a challenging but manageable genetic condition that requires early detection, specialized care, and continuous medical support. As part of our 28 Days, 28 Rare Diseases campaign, we continue to share insights on rare genetic disorders, medical breakthroughs, and the power of genetic testing.
📢 No disease is too rare to care. Help us spread awareness and support families facing Duchenne Muscular Dystrophy.
For expert guidance on genetic testing, genetic counselling, or DMD management, reach out to our center today! 💙