The muscular dystrophies (MD) are a group of inherited genetic conditions that gradually cause muscles to weaken, leading to an increasing level of disability. MD is progressive which means that the condition worsens over time. It is caused by a genetic fault that prevents the production of a protein called dystrophin.
Muscular Dystrophy is a cluster of muscle disorder that appear before the age of 6, in which muscles of the body start deteriorating one after the other, making a patient weak with the passage of time. Muscle weakness is the main and basic symptom of muscular dystrophy which leads to difficulty to carry out daily functional activities.
Types of Muscular Dystrophy:
Depending upon impaired gene, site where the gene is located, and the progression of symptoms muscular dystrophies are divided into various types.
The different forms of MD are:
• Duchenne muscular dystrophy : It is the most common form of muscular dystrophy which affects young males. The symptoms usually start to appear during 2-3 years of age. Patients with Duchenne muscular dystrophy (DMD), lack a protein called dystrophin, which makes their muscles easily damaged. Muscle damage may lead to inflammation that causes further damage to muscle tissue. The child becomes physically impaired till the age of 12 and dies due to respiratory failures till the early 20’s.
• Emery-Dreifuss muscular dystrophy : It is a very rare form of Muscular Dystrophy. Additionally, it is observed in childhood to early teens. Symptoms include wasting of muscles, weakness, joint deformities with slow progression. In severe cases, sudden death may occur due to cardiac arrest.
• Limb-girdle Muscular Dystrophy : Limb-girdle muscular dystrophy affects both boys and girls. It usually occurs in late childhood and lasts till middle age. The symptoms include muscle atrophy in shoulders, upper arms, around the thighs and the hips.
• Myotonic Muscular Dystrophy : This is a type of Muscular Dystrophy, in which muscle relaxation can cause a problem occurring especially in teens. Some other problems such as muscle weakness, wasting, cataracts and heart problems are commonly observed.
• Fasciocapulohumeral Muscular Dystrophy : This type of Muscular Dystrophy occurs in both men and women but predominant in men. Symptoms may include sleeping with their eyes slightly open, an inability to squeeze their eyes tightly and an inability to bring their lips together.
Symptoms of Muscular Dystrophy:
The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. Some of the important symptoms are:
- Frequent falls
- Difficulty rising from a lying or sitting up position
- Trouble running and jumping
- Waddling gait
- Large calf muscles
- Muscle pain and stiffness
Causes of Muscular Dystrophy:
MD is caused by changes/mutations in the genes responsible for the structure and functioning of a person’s muscles, for eg: Duchenne Muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD). They are caused by mutations in gene coding for the functional protein dystrophin. The faulty gene either does not produce enough dystrophin or produces dystrophin that doesn’t work properly. This gene is located on the X chromosome.
Muscular Dystrophy can be inherited in following ways :
• The dominant inheritance occurs when a child receives a normal gene from one parent and a defective gene from the other parent.
• Autosomal recessive inheritance means that both parents are carrier and pass on the faulty gene. The parents each have one defective gene but are not affected by the disorder.
• X-linked (or sex-linked) recessive inheritance occurs when a mother carries the affected gene on one of her two X chromosomes and passes it to her son.
A family history of muscular dystrophy will increase the chance of it affecting an individual. Muscular Dystrophy is caused by mutations on the X-Chromosome. Each type of muscular dystrophy is due to different set of mutations, but all prevent the body from producing dystrophin, Dystrophin is part of an incredibly complex group of proteins that allow muscles to work correctly. If dystrophin is absent or deformed, this process does not work correctly, and disruptions occur in the outer membrane. This weakens the muscles and can also actively damage the muscle cells themselves.
How Stem Cells help in Muscular dystrophy?
There is no specific treatment for muscular dystrophy. Scientists are researching to treat this genetic disorder. Stem Cells are known to have shown a high potential ability to regenerate and repair the damaged muscle cells. These cells can renew themselves and turn into any type of cell in the body. Therefore, stem cells help to counterattack all the potential causes for Muscular Dystrophy.
Stem cells also stimulate the resident satellite cells. In addition to the actual regeneration of muscle cells and replacement of resident stem cells, transplanted cells also stimulate various beneficial paracrine mechanisms. These cells secrete various anti-inflammatory cytokines and growth factors that are myoprotective. Vasculoendothelial growth factor is a growth factor that promotes neoangiogenesis. For MD, we harvest cells from the patients’ own body (autologous stem cells). After activation the cells are transplanted into the appropriate site. Stem Cells also stimulate muscle plasticity which relieves the patient from stiffness and pain.
Stem Cells have shown a tangible approach in the treatment of Muscular Dystrophy. They help in producing healthy muscle fibres by generating working muscle fibres to replace the patient’s damaged ones. These cells are also very helpful in reducing inflammation. In muscular dystrophy damaged muscles become very inflamed. This inflammation speeds up muscle degeneration. Scientists believe certain types of stem cells may release chemicals that reduce inflammation, slowing the progress of the disease.
There are other therapeutic strategies such as gene therapy or small-molecule drugs for repairing the damaged gene are being tested in patients and in pre-clinical models.
Gene Therapy: Gene therapy for the treatment of muscular dystrophy has safely stopped the muscle deterioration associated with the disease. With the modified gene therapy approach, the research team engineered adeno-associated virus (AAV) vectors to deliver a ‘substitute’ protein for dystrophin in animal DMD models to keep the muscles intact. The synthetic substitute, based on a protein called utrophin, proved to be an effective and safe alternative.
Rehabilitation: Several types of therapy and assistive devices can improve the quality and sometimes the length of life in people who have muscular dystrophy. Examples include:
• Range-of-motion and stretching exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Range-of-motion exercises can help to keep joints as flexible as possible.
• Exercise. Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and general health. Some types of strengthening exercises also might be helpful. But it’s important to talk to your doctor first because some types of exercise might be harmful.
• Braces. Braces can help keep muscles and tendons stretched and flexible, slowing the progression of contractures. Braces can also aid mobility and function by providing support for weakened muscles.
• Mobility aids. Canes, walkers and wheelchairs can help maintain mobility and independence.
• Breathing assistance. As respiratory muscles weaken, a sleep apnea device may help improve oxygen delivery during the night. Some people with severe muscular dystrophy may need to use a machine that forces air in and out of their lungs (ventilator).
How HBOT works for MD?
Hyperbaric Oxygenation with ATP and CDP choline has proven to be effective for muscular dystrophy. Inhalation of 100% oxygen at a pressure of 15 psig combined with intravenous administration of ATP and CDP choline gave a marked improvement of muscle strength. It results in an increase of grasping power, back stretching power, a prolongation of standing time on one leg, breath holding time, and an increased rapidness at walk.
Cost for Stem Cell Treatment with HBOT :
Cost effectiveness is the main concern of all the medical tourists that are flying from abroad for medical treatment of Muscular Dystrophy. We at Manaaki, keep the process transparent and authentic. No adulteration in costs, treatment, commission. India is well known for it’s international standards, no language barrier, personalized attention, safe surgery and seamless travel opportunities. The patient must stay for 30 days, however in some cases 45 days of stay is recommended. Approximate cost of treatment of Muscular Dystrophy would range between USD 6500 to USD 10000 per cycle depending on current condition of the patient. Hyperbaric treatments average costs between 50-90 USD per session each of 60-90 minutes for 25-30 days daily.