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Muscular Dystrophy

What Is Muscular Dystrophy?

Muscular Dystrophy can be classified as the disease with inborn genetic manipulation which damages and weakens muscular structure and strength over the period of time. It has been observed that people with MD, have missing or incorrect information passed by their genes during the production of an important protein known as Dystrophin. This protein is required for normal muscular functions of the body such as walking, swallowing, coordination, etc.


There are approximately thirty different forms of Muscular Dystrophy that vary in symptoms, problems, and severities. As the disease is related to muscular weakness, it can be possible that babies, teens or adults can express muscular problems at any phase of their development. This severe form of MD is observed in babies, especially boys, who can experience the swift and severe muscle weakness and wasting typically resulting in death in their late teens to early 20’s. 


Prevalence of Muscular Dystrophy

An estimated one out of every 35,000 males have Muscular Dystrophy. In a different study, it has been estimated that almost 29% of the men are using a wheelchair at the age of 9 years, 82% of the males are using wheelchair support at the age of 14 years, and more than 90% of them use the chair at the age of 24 years.

As far as the survival status is concerned, 100% of the boys were living at the age of 9 years old till the end of the study, 99% of men were living at the age of 14 years, and 58% of them were living till their early 20’s.

There are approximately thirty different Muscular Dystrophy variants, but nine forms of MD are more commonly reported.

Duchenne Muscular Dystrophy – This is the most common form of the variant. Almost half of the reported cases are suffering from DMD. This affects boys; the symptoms are usually observed during 2-3 years of age, the child becomes wheelchair bound at the age of 12 years and typically dies of respiratory failure by his early 20’s. As this involves the weakness of major involuntary muscles such as heart and lungs, it is known to be the most severe of all.

Becker Muscular Dystrophy – This is another form of MD, very similar to DMD. In spite of being similar to DMD, the disease is much milder than DMD, and its symptoms start very late with the less severity. On an average, people with BMD, start expressing symptoms such as muscle breakdown and weakness by the starting of adulthood. Sometimes, people with BMD can also exhibit breathing disorders, heart, bone, muscles, and joint problems.

Emery Dreifuss Muscular Dystrophy – This is a very rare form of MD, typically expressed in late childhood to early teens. Although rare, symptoms include wastage of muscles, weakness, joint deformities with slow progression. In severe cases, sudden death may occur due to cardiac arrest.

Limb-girdle Muscular Dystrophy – This is a type of muscular dystrophy, affecting boys and girls equally. It usually occurs in late childhood to middle age. The symptoms include muscle wastage in shoulders, upper arms, around the thighs and the hips. The progression of the disease is slow, but in later stage of life a wheelchair may be completely necessary.

Myotonic Muscular Dystrophy – This is a type of MD in which muscle relaxation can cause a problem. It occurs, especially in teens. Some other problems can also be exhibited such as muscle weakness, wasting, cataracts and heart problems.

Congenital Muscular Dystrophy – This is a generalized term for all the babies and children with MD. This is equally expressed in both girls as well as boys. In rare cases, CMD can as well cause learning or intellectual disability.
Facioscapulohumeral Muscular Dystrophy – This type of MD occurs in both men as well as women but is found to be more common in men than in women. It has been observed that about one in three people with this type of MD is typically unaware of the condition until well in adulthood. The symptoms may include sleeping with their eyes slightly open, an inability to squeeze their eyes tightly and an inability to bring their lips together.

Factors Responsible for Muscular Dystrophy

Muscular Dystrophy is a genetic disorder due to a faulty expression of mutated genes. Almost 90% of the disorders are inherited from the family history whereas 10% of them are expressed due to spontaneous changes in their mother’s egg or developing embryo that has been passed on to the next generation. A female who carries the faulty genes can pass the same on to the next generation. If the genes are being passed to 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.

Researchers could ultimately discover the abnormal gene which, when defective, can cause Muscular Dystrophy. The muscle protein associated with the gene abnormality is known as the Dystrophin. In some muscular dystrophy cases, the protein is being produced, but it’s either not clear or is of very poor quality. However, scientists are still working to discover the genetic defects causing other forms of muscular dystrophy.

Symptoms Associated with MD

Muscular Dystrophy is a disease that cannot be diagnosed early in its progression; in fact, some children follow the normal pattern of development during first few years of their life. Slowly and over time they start developing problems in small things such as a climbing staircase, walking on their toes, etc. A child may start to stumble, waddle or there may be difficulty in getting up from the sitting position. A typical observation is that a child with MD often develops enlarged calf muscles due to fat replacements.

Prognosis of MD

A child has to first undergo a thorough physical examination followed by a detailed consultation on the family history. Some tests are also suggested to determine the type of MD. The doctor as well may suggest a blood test to determine if there are genetic problems.

What goes wrong in MD?

Muscular dystrophy is a type of neuromuscular disorder that progressively damages the healthy muscles causing them to be weak and wasted. This disease is a form of congenital abnormality due to the wrong expression of faulty genes. Muscles and membranes need many different proteins to be strong and function properly. Some of these important proteins are being 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 genetic makeup. In people with muscular dystrophy, due to gene mutation, wrong information is passed from one generation to another generation due to which these important proteins not being produced or being produced in very low quantities.

Without these proteins, muscles lose their structural and functional integrity slowly and progressively, which may affect the overall normal functioning of the body.

Stem cell treatment for MD

Muscles are the important fibrous connective tissue of the human body primarily involved in movements in connection with the bones and skeleton. They are responsible for the beating of the heart, closing of eyelids and constitute the walls of the important organs. There are different types of muscles working in our bodies such as cardiac muscles, skeleton muscles, and smooth muscles.

These muscles are the bundles of the packed cells known as muscle fiber cells. Due to different types of genetic manipulations, cells of the muscles are lost in neuromuscular degenerative diseases such as Muscular Dystrophy. There are some stored cells known as stem cells or satellite cells which are responsible for the production of dead muscle fiber cells to cope up with the damage. In case of MD, when cells are damaged, they activate stem cells to form new muscle fibers or fuse with the existing cells to repair the damage. However, over time, the damage is so high that the reserved quota of stem cells may not be sufficient.

Scientists have proved that our body has different sources of stem cells in different organs which are not being utilized. These sources of stem cells can now be used to isolate rich populations of stem cells which when infused into the muscles can replace the damaged muscle cells with healthy muscular fibers and reduced the inflammation associated with muscular dystrophy thereby slowing the progression of the disease.

Treatment of MD at our Partner Clinics

Generally, stem cells are administered through any one of the following methods:

Intra Muscular Administration- Through this mode, cells are infused directly in the muscles.

Intravenous Administration- Through this mode, cells are infused through the veins along with the mannitol to expand blood volumes in the central nervous system to ensure that the maximum number of cells are reaching the targeted area.

Once infused back in the body, these cells can reach the targeted site through their strong paracrine effects and differentiate into lost muscle fiber cells or help revive the damaged ones to restore their function.
Thus with our standardized, broad-based and holistic approach, it is now possible to obtain noticeable improvements and stop the progression of the disease in patients with progressive MD.

Tag: auto-immune

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