Duchenne muscular dystrophy, first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s, is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy that shows most rapid disease progression.
DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk. The calves often are enlarged. By the early teens, the heart and respiratory muscles also are affected.
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year). Because this is an inherited disorder, there is always a risk of a family history of Duchenne muscular dystrophy.
There is no known cure for Duchenne muscular dystrophy. The present treatment options available aims to control the symptoms to improve the quality of life. A few drugs are being used to improve the symptoms, but their effects have not yet been proven.
Shael Kapoor’s Story
Here we have a case report of a young boy with Duchenne Muscular Dystrophy, whose determination and free spirit makes him an example of hope and optimism for millions outside. Master Shael Kapoor, 15 years old, is a known case of Duchenne muscular dystrophy. At the ripe age of 3 years, his mother noticed that young Shael had difficulty getting up from the floor and taking his first few initial steps. His mother also noticed that he was unable to balance himself for a long time and had frequent falls. Noticing this, his parents approached a hospital in Pune where was diagnosed with Duchenne Muscular Dystrophy. He started medications and rehabilitation soon after, but the results obtained were limited. Slowly his Duchenne progressed, and at seven years of age he also started having difficulty in climbing stairs.
His parents then began looking for alternate treatment options that could help their son stand on his feet again. It was then that they came across stem cell therapy for muscular dystrophy and approached NeuroGen Brain and Spine Institute.
Shael Kapoor first came to NeuroGen Brain and Spine Institute in August 2012. On examination it was seen that, he had weakness in his lower extremity muscles, difficulty in performing over head activities, bed mobility. He could not stand or walk and had developed tendency for scoliosis.
At NeuroGen Brain and Spine Institute, he underwent stem cell therapy along with an extensive rehabilitation program consisting of physiotherapy, occupational therapy, speech therapy and psychological counseling. The most experienced and senior therapists of the institute worked with Omkar. He started with rolling exercises and stretching to strengthen his weak muscles without fatigue. He was also taught mobility techniques along with exercises to strengthen his trunk, neck and hand muscles. Together, he was able to perform most of his daily activities without much assistance that improved his overall confidence and stamina.
What Mrs. Kapoor, mother to Shael’s mother have to say
“I’m so proud to see Shael’s progress. When he was first diagnosed with DMD it was like a stab to the heart. But without losing hope, I started working towards Shael’s progress. The doctors at NeuroGen have given me a detailed plan about the rehabilitation that I can go with my son at home and I follow it regularly. Initially, his stamina was very poor. He used to tire easily. However, after stem cell therapy and the rehab program at NeuroGen Brain and Spine Institute his energy levels have increased. Infact, this year he participated in the Gauri Ganpati Puja we usually conduct with a vigor never seen before. All my relatives are also happy to see this change in him. This year he will appear for his standard tenth examination and I’m sure with Bappa’s blessings he will do extremely well.” Says Mrs.Kapoor, Shael’s mother.
With the improvements seen in their son, Shael has undergone stem cell therapy and rehabilitation twice at NeuroGen Brain and Spine Institute.
Detailed Facts About Improvements After Each Stem Cell Therapy
Improvements seen in Shael Kapoor post first Stem Cell Therapy
- He reports increase in strength and stamina with ease in performing all exercises.
- His knee muscles have improved in flexibility, with ability to straighten both knees.
- His hand grip had improved.
- He is able to stand on standing board with bilateral push knee splints for almost half an hour.
- His bed mobility mainly rolling has become better and independent.
- Mother reports his hand and leg movements have improved.
- Earlier while sitting and standing, his heels used to never touch the floor and now while sitting and standing, his heels can almost touch the floor and only a small range is remaining now.
- He can lift both his shoulders in the modified manner and can bring the hand down in a controlled manner. Earlier his hands used to drop down while bringing it down from shoulder.
- His knee and hip contractures have reduced. His knee has straightened than before and while stretching his hip flexors in prone position hip level contracture has reduced and the buttocks can touch the bed.
- In prone position, he couldn’t lift his neck. Now after SCT, he can lift his neck.
He could actively initiate supine to sit position by himself with mother’s assistance. Earlier before SCT, he couldn’t initiate at all.
- He can initiate exercises like rolling, bridging. Earlier he needed maximum assistance to do so.
After seeing the overall improvements in Shael, he underwent a second session of stem cell therapy in May, 2014.
Improvements seen in Shael Kapoor’s Post Second Stem Cell Therapy
Subjective improvements as seen by his parents
- Handwriting has improved and speed has also improved.
- Diet has improved.
- Immunity has improved, earlier he would fall sick very often, that has reduced and frequency of cough and cold has decreased.
- Earlier tongue would always remain out and mouth would also remain open but now it has reduced.
- Lower extremities movements have increased. Can now kick with bilateral knees.
- Weight has decreased.
- Stamina has improved.
- In sitting posture he can shift within the bed.
- His condition has remained statusco and he has not deteriorated.
- His hair and nail growth has increased after first transplantation.
Improvements as reported by therapist
Static and dynamic sitting balance has improved.
- Has 10% improvement in standing static balance.
- Bilateral knee flexion contracture has decreased. Earlier it was -45 degrees to external bilaterally but now it is almost stretchable to neutral, leg in only last 5 degrees bilaterally.
- His stamina has increased and is maintained. Earlier neither he could stand nor walk with appliance, i.e. bilateral push knee splints with high boots, now he can stand and walk with support. Earlier he was standing for 10 minutes with help of bilateral push knee splints and walker. Now he can stand for up to 1 hour with the help of wall support and walker and can take few steps.
- Rolling speed has improved.
- His writing speed has increased, earlier he could write 1 page and get tired, now he can write 2-3 pages at a stretch.
- Earlier he used to get breathless while walking; now he doesn’t get breathless.
- His passive knee range of motion has increased bilaterally.
- He has started going for MCIT and English speaking course.
- Can manage laptop and play games on it.
- Tongue hypertrophy has decreased.
- Speech is more clear and fluent. His volume has increased. Now he can read for 1/2 hour – 45 minutes. Earlier he used to get tired in 10 minutes.
- Earlier his heels were not touching the floor; now in standing his heels touch the ground.
Improvements as reported by speech therapist
- Stuttering reduced by 70% to 80%.
- Reading confidence increased.
- Talking with strangers also improved, occasionally stammers.
- Tongue flexibility improved.
- Mouth closing improved.
- Tongue elevation improved, now he can touch nose as well.
- Tongue rolling improved.
Like every other young teenager, Shael has a profounding love for his laptop and his video games. This year, he will appear for his standard tenth examinations and he aims to clear those with flying colors.