Duchenne Muscular Dystrophy (DMD) is a childhood genetic condition that results in muscular disorder, especially in skeletal muscles. Even though the child is born with the genetic condition, symptoms are not visible at birth. Muscle weakness develops gradually and usually becomes noticeable within 3 to 4 years of age. Named after Dr. Duchenne de Boulogne from Paris, who was one of the first people to study muscular dystrophies, this form of muscular dystrophy is the most common type with a global incidence of 1/3500 male births. DMD is an X-linked genetic disorder that primarily affects male children and primarily affects the dystrophin protein in muscle fibers.
Scientific Mechanism For Duchenne Muscular Dystrophy
Dystrophin is the protein responsible for connecting muscle fiber cytoskeleton to the underlying basal lamina and the absence of dystrophin stops calcium ions from entering the cell membrane, affecting cell functioning. A complex cascade involves several pathways and this basically leads to increased cellular oxidative stress-related damage, followed by damaged ad dysfunctional cells. Thus the lower expression of dystrophin damages muscle fibers and are replaced with soft connective tissues, leading to weakness and loss of function.
The muscle weakness typically starts proximally in the lower body extremities and then moves distally. Therefore, fine movements of fingers are less affected than major movements like walking. The major symptoms of Duchenne Muscular Dystrophy (DMD) are:
- Difficulty in walking, running, jumping and stair climbing.
- Toe-walking becomes a usual pattern for children to maintain balance.
- Calf muscles look bulky but they are not strong.
- Contractures are common when muscle tissues are replaced by hard non-stretchy tissues.
- Frequent falls due to inability to maintain balance.
- Learning and speech development might be delayed in some cases.
Mobility aids are prescribed to the children with DMD for helping them lead a fairly independent life. Motorized wheelchair, in-home hoists, standing frames are also used for the child movement and support. Knee-ankle-foot orthosis may be also be used besides mobility aids so that the child can stay as active as possible. In case of DMD, bed rest can adversely affect the condition by making muscle-weakening worse. As for pharmaceutical management, steroids have been used to reduce pain and increase muscle strength but with significant side effects. Beta-blockers might also be effective in regulating the respiratory complications. Besides these drugs and mobility aids, some families also consider surgery for their child suffering from Duchenne’s but spinal surgeries or other surgeries do pose major risks and depending on the child’s respiratory complications, anaesthesia effects are also risky.
Cell Treatment for Duchenne Muscular Dystrophy (DMD)
Apparently, there is no current cure for Duchenne Muscular Dystrophy (DMD) and symptom-based multidisciplinary management of the disease have only enabled an improved level of survival and reduction in the symptoms without focusing on treating the root cause, i.e., muscle damage. At this point, stem cell therapy or regenerative medicine comes to the rescue.
Stem cells have the capacity to differentiate into any type of body cell lineage and also undergo self regeneration in case of proliferating their own pool. Stem cell therapy has a promising potential to repair the damaged body tissues and regenerate new healthy tissues. Thus stem cell therapy, in case of DMD, can transmit progressive muscle proteins and function in the restoration of stem cell pool in the tissue microenvironment besides immunomodulation and optimized vascularization. In this way, stem cell therapy might prove to be the best clinical approach to treat DMD as regenerative cell therapy for muscular dystrophy plays major role in tissue remodeling, inflammation reduction and mitigating cell death.
Autologous cell therapy at Duchenne muscular dystrophy treatment centers in India, like Advancells, not only reduces the patient’s DMD symptoms and clinical presentation and can also stabilize muscle functioning, besides enhancing balance and stamina of the body.