Muscular dystrophy is a heterogeneous group of neuromuscular disorders that leads to muscle weakness, muscle wasting. Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases which shows rapid muscle degeneration causing muscle weakness. Sir Charles Bell was the first to write about progressive muscle weakness that he observed in young boys in 1830. This muscle wasting is now referred as 'muscular dystrophy'. The term 'dystrophy' is derived from the Greek word "dys" which means 'difficult' or 'faulty' and "troph" which means 'to nourish'.
Muscular Dystrophy (MD) are a cluster of muscle disorders that generally appear before the age of 6, in which muscles of the body start deteriorating one after the other, making a patient weak with passage of time. In muscular dystrophy, the deterioration happens rapidly and progressively and ultimately reaches the muscles of the heart and respiration.
Muscle weakness is the main and basic symptom of muscular dystrophy which leads to difficulty to carry out the daily functional activities. These disorders vary in age of onset, severity, and pattern of affected muscles. All forms of muscular dystrophy grow worse as muscles progressively degenerate and weaken.
Babies, teens or adults can face the muscular problems at any phase of their development as this is caused due to muscular weakness. About 1 in every 3,500 boys worldwide is born with the most common form of the disease, Duchenne Muscular Dystrophy.
Depending upon impaired gene, site where the gene is located, and the progression of symptoms muscular dystrophies are divided into various types.
Major forms of Muscular Dystrophy:
Muscular Dystrophy cannot be diagnosed early in its progression since some of the kids have the normal pattern of development during first few years of their life. Slowly and gradually they start facing problems such as climbing staircase, walking on their toes, getting up from the sitting position etc. Mostly a child with MD, often develops enlarged calf muscles due to fat replacements.
Some of the important symptoms are:
Muscular dystrophy is a neuromuscular disorder that constantly damages the healthy muscles making them weak and wasted. The disease is a form of congenital abnormality due to wrong expression of faulty gene. Muscles and membranes need many different proteins to be strong and function properly and these proteins are supplied to our body from the food we eat but some of them are synthesized by our own body such as Dystrophin.
This information regarding the production as well as the amount of protein is being passed on, by our own genetic makeup. Due to gene mutation wrong information is passed from one generation to another generation due to which these important proteins are not produced or produced in very low quantities. Without these proteins, muscles lose their structural and functional integrity slowly which may affect the overall normal functioning of the body.
Muscular Dystrophy is the genetic disorder due to faulty expression of mutated genes. Out of 100% almost 90% of the disorders are being inherited from the family history whereas 10% of them are expressed due to spontaneous changes in their mothers’ egg or developing embryo that has been passed on to the next generation. A female who carries the faulty genes can pass the same to next generation. If the genes are being passed to the daughters, they become the carrier of the same whereas if the genes are being passed on to the boys they tend to express the symptoms.
The gene produces a protein called dystrophin, which helps muscle cells keep their normal shape and function is responsible for Duchenne and Becker's muscular dystrophies normally. 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.
Women have two X chromosomes, but men have only one X chromosome (men also have a Y chromosome, which does not have a copy of the dystrophin gene). In girls the healthy gene on one X chromosome can produce enough normal dystrophin to compensate for the defective gene on the other X chromosome making them safe from this disease. Boys who inherit the defective gene do not have another copy of the good gene therefore are not capable to make enough dystrophin to keep their muscles healthy.
A woman with abnormal gene is called a carrier. Each of her children (boy or girl) has a 50% chance of getting the gene from her. If the child is a boy and inherits the defective gene, he will develop the muscle disease. If it is a girl, she will be a carrier who can then pass the gene on to her own children.
Any woman from or in an affected family must get tested before planning her pregnancy to find out if she is a carrier. If she is not a carrier, she will not pass the disease on to any of her children. A fetus can also be tested for the disease during pregnancy.
Muscular Dystrophy can be inherited in following ways :
Due to these genetic defects the proteins that are formed by these genes are either absent or less functional. The group of proteins that are affected in different muscular dystrophies are called Dystrophyn Sarcoglycan Complex (DGC). DGC is important to maintain the structure of the cell wall of the muscle cell called Myocyte.
Muscle degeneration occurs due to bad structure of the cell wall of myocyte (muscle cell) even with day to day muscle activity. This uncontrolled degeneration leads to rapid muscle death and weakness which ultimately leads to muscular dystrophy. Uncontrolled muscle death is the primary cause of muscle weakness. Due to continuous muscle degeneration there is chronic inflammation which damages muscles even more. Along with muscles of the body, the muscles of cell walls are also affected which affects the blood supply to the muscles causing more damage. As DCG is also present in various non-muscular tissue like nerves, kidneys, spleen and Schwann cells so muscular dystrophies may also show some neurological symptoms.
Research is going worldwide to treat this genetic disorder. Recent research has proven that stem cells has potential ability to regenerate and repair the damaged muscle cells. Stem cells are at an early stage of development therefore they can turn into any type of cell in the body and undergo self-renewal. Stem cells help counteract all the potential mechanisms that cause muscular dystrophy. Stem cell therapy is one of the effective treatments for Muscular Dystrophy as it provides cells that can both deliver functional muscle proteins and replenish the stem pool. Transplanted cells have myogenic potential i.e. the cells can divide into a mature myocyte and then can repair and regenerate muscle fibres. Preclinical evidence ensures that stem cell therapy can restore dystrophin protein which leads to formation of muscle fibres that are resistant to easy damage and degeneration.
Stem cells also stimulates 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. Stem cells secrete various anti-inflammatory cytokines and growth factors that are myoprotective. Vasculoendothelial growth factor is a growth factor that promotes neoangiogenesis. Stems cells also stimulate muscle plasticity preventing fibrosis. These paracrine effects are also catalysed by exosomes secreted by MSCs.
Stem cells are known to have a tangible approach in the treatment for Muscular Dystrophy (MD). These cells by his natural property can regenerate affected muscles by inducing myogenesis and provide a decent symptomatic relief. As the expected deterioration of patients of MD is about 20% every year, an improvement in percentage of deterioration after Stem Cell therapy is proven and observed by most doctors. Stem cell therapy can halt the growth of the disease which can prevent further complications of the disorder.
Beside stem cells, other conventional therapies such as gene therapy, drug therapy and rehabilitation are being used for better and effective results.
Drug Therapy: This include those drugs which slow down the process of muscle wasting. Anabolic steroids and supplementation are commonly used.
Different drug therapy can help you in:
Rehabilitation: Physical therapy, occupational therapy, speech therapy and other recreational therapies play a very important role in helping the patient to do the daily activities and increase their own independency. The main aim of these therapies is to maintain the muscle extensibility and prevent joint contractures that may lead to deformities if kept untreated. Rehabilitation improve quality of life of the patients and prevent secondary complications like contractures and deformity.
Gene Therapy: The aim of the Gene Therapy is to introduce genes into the patients to normalize the gene expression and protein production. In most of the gene therapies a normal gene is inserted into the genome to replace the abnormal gene causing the disease. This can be done using viral vectors, Antisense- Induced Exon Skipping or Read through Stop Codon Strategies. However, the high cost and lack of human clinical trials, makes gene therapy an apprehensive approach.
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, resulting 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.
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The patient must stay for 30 days, however in some cases 45 days of stay is recommended. The approximate cost of Stem Cell Treatment would range between USD 6500 to USD 10000 per cycle depending on current condition of the patient.
Hyperbaric treatments average cost between 50-90 USD per session each of 60-90 minutes for 25-30 days daily
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