What is Muscular Dystrophy?
Muscular Dystrophy is considered as a group of muscle diseases which leads to degeneration of the skeletal system leading to skeletal changes or the muscles and reduction in flexibility. This disease generally affects the muscular system and some other parts of the body. There are more than 30 different types of muscular dystrophy, out of which nine of them are the common ones, specially Becker’s, Duchenne and Myotonic muscular dystrophy.
When there is mutation of the genes, it leads to an impact on the structure of the muscle, thereby causing muscular dystrophies. This medical condition is mostly inherited or genetically passed down from the parent to the child, however this is not always the case. 35 percent of the time, this disease is said to occur just randomly due to spontaneous gene mutations which change the production of protein in the body, but the cause of the same is still unknown. Muscular dystrophy is said to be commonly occurring in males rather than in females due to the chromosomes which the male is born with.
There are various methods when it comes to treating the disease. It would be a combination of steroids, orthopedic devices such as wheelchairs or braces, support groups, therapies, albuterol which is a drug used for those suffering from asthma, exercises, speech pathology, supplements for increasing the energy levels as well as the muscle mass and other forms of modalities. Research is also being carried out on the treatment for this disease such as stem cell therapy and gene treatments.
During the golden era where there has been a lot of excellent discoveries being made, it is also important to give a thought on the preceding events which led to all the developments. The past two decades have witnessed crucial inventions which are now known as genuine contributions. However, this was not the case always. 60 to 70 years ago, there have been a varied number of devoted and talented researchers, scientists or medical practitioners whose work has been commendable in the field of discoveries.
After so many years of unproductive dalliance with the myoblast transfer therapy, there came an age of the DNA technology. Although there were some great advances which have been made in decades post the World War II, the outstanding ones were yet to come and one of those was concerning the application of molecular genetic technology to this field. With the pedigree of the families that were already documented by the clinicians, it also became possible to locate the gene for many of the inherited neuromuscular disorders overnight.
The discovery of dystrophin gave great hopes in the field of cure for treating DMD by the gene method. There was great optimism expressed and workshops were also held at the Australian Neuromuscular Research Institute in the year 1992. However, in spite of the vigorous and imaginative efforts, the methods which were used for the introduction of the normal gene into the dystrophic muscle cell beginning from the viral vectors have not shown much success, whereas on the other hand the valuable clinical benefits of DNA analysis were quite unexpected and received immensely by all.
Misconceptions about Muscular Dystrophy
- Muscular Dystrophy only affects Males - This can be stated as partially correct, since in most cases males are the ones who are affected with Muscular Dystrophy, however it would also be wrong to say that females are not affected with this disease. Due to the X-chromosome linked recessive pattern, males are at an increased risk of inheriting this disease, but girls can also be affected with this disease. Muscular dystrophy is termed as a neuromuscular disorder and can affect any gender, be it girls or boys, but it would vary in percentage only.
- Muscular Dystrophy is not genetic - It is completely wrong to think that this disease is not genetic. In certain cases of genetically inherited disease, it would takes years to show up even few of the subtle signs of it being present inside the body. Duchenne muscular dystrophy can be termed as one of those genetic disorders which usually takes time to show up in the individual. This kind of recessive X-linked form of muscular dystrophy is usually the result of dystrophin gene mutation which resides in the X chromosome. As this dystrophy disease gets transferred in the X-linked recessive pattern, males are more likely to get affected with this medical condition.
- Muscular dystrophy can be termed as a motor neuron disease - When the research about Duchenne muscular dystrophy was doing the rounds, there were certain propositions that this disease is related to motor neurons. However, with newer and advanced forms of technology as well as better understanding about the facts of this disease, it was later concluded that it is one of the nine types of muscular dystrophy which mainly impacts the voluntary muscles. With this finding, the diagnosis as well as the treatment of this fatal disease became a bit easier in the medical circle. With further findings, it has been concluded that this medical condition is caused due to the absence of a protein known as dystrophin, thus making it easier for producing the medicines so that it could fulfil the body’s requirement of this particular protein.
- One cannot determine the presence of muscular dystrophy in the prenatal test - It has been proved medically that muscular dystrophy is mostly carried by the X-linked recessive gene. This means that the fathers are not able to transfer this abnormality in their kids, however it is the pregnant mother through whom this particular disorder can be passed on to the child. The best part is that conducting certain prenatal tests would make it actually easier to tell whether this disorder has been passed on to the unborn during pregnancy. The diagnosis which can be carried out for this confirmation is CVS or amniocentesis. During gestation, the pregnant women should ensure to carry out a complete diagnosis looking at the ill-effects of this disease.
- Use of bodybuilding supplements and milkshakes can help to keep muscular dystrophy at bay - This is quite strange, but a lot of people mostly from the US and European regions tend to believe that body supplements in fact help to put an end to this disorder. However, this does not hold true no matter what supplement you take. It is not that easy to get rid of this disorder. This disease is a genetically inherited disease which mostly requires proper medical guidance with a well-planned treatment option and a lot of support and care. One cannot find a permanent solution until they go in for a biopsy or medical supervision.
- Do not carry out any physical activity while diagnosed with muscular dystrophy - Have you heard from someone that carrying out any kind of physical activity would lead to worsening of the symptoms or one should take complete rest once diagnosed with this disease.? If you have, then those individuals do not have proper knowledge about this disease. The fact is that through extensive research, it has been shown that carrying out certain physical activities such as walking, carrying out daily chores, swimming or any other less strenuous activity would actually help in recovering from this disease. On the contrary, it has been said that complete bed rest is a strict no for people suffering from muscular dystrophy.
- Those individuals impacted with muscular dystrophy die young and fast - It is certainly true that a patient suffering from muscular dystrophy cannot expect a life of 70 years, however it would be wrong to say that those individuals die too young. Those individuals who have been identified with muscular dystrophy often are said to live up to the age of 30 to 35 years. There have also been cases that patients with this disease tend to live a normal life till the age of 50 years and this becomes possible only because of their determination and grit to keep moving. In such cases, support from loved ones is extremely important for the individual to live a quality life.
- Stem cell therapy is not a good option for those with muscular dystrophy - With the advent of various discoveries, it had also been discovered sometime ago that stem cells can be really helpful for those patients who are suffering from muscular dystrophy disease. However, the only issue pertaining to this treatment was that there was frequent need for injecting 2mm of myotubes. But in the recent researches which have been conducted, this problem is also known to be evaded. In today’s era, the multi-potent stem cells known as pericytes are said to be injected arterially. It tends to cross the arterial walls and goes directly into the muscles wherein they work on various functional muscles. Hence, a patient with muscular dystrophy can be assured that stem cell therapy is a good treatment for this disease.
- For diagnosing of muscular dystrophy, carrying out DNA testing is not good enough - It is not always true that DNA testing is the best diagnosis, but one cannot deny the fact that there are a good number of chances that with DNA testing, it would be easier to identify the disorder. The muscle specific isoform of dystrophin gene is said to be made up of 79 exons and by carrying out the DNA testing, it would come out to be good enough to catch it. It has been said that in 99 percent cases, it is able to do so. However, there are other tests also which can help out in the diagnosis.
- Disease which are X-chromosome linked do not affect girls - There are quite a number of cases of X-linked diseases and sometimes very severe in the male population, but that does not mean that it does not affect females. Having just one X-chromosome, males do not have any extra gene to take up the slack when an X-linked chromosome is already defective. Females on the other hand have two chromosomes, one from each parent. In certain cases, a normal copy of the X-linked gene is not enough to compensate for the one which has gone defective.
- Environmental factors are said to be responsible for gene defects - Once it has been found out that there is some kind of genetic disease in the family, most people naturally try to search the answers about how the disease got there. Science has to say that defects or mutations in case of genes is caused due to the exposure to certain toxic chemicals and radiations or due to malnutrition. It is true that intense form of exposure to certain kinds of chemicals or toxic radiations can actually lead to significant damage to the DNA, which is the chemical that makes up the genes. However, such kind of damage is unlikely to cause any kind of inheritable mutations. It is likely to cause health related issues which is mostly restricted to the exposed person, unless the damage tends to hit the fetus or is known to occur during the period of conception. Malnutrition is also said to lead to birth defects, but there is no foolproof evidence that it can cause genetic diseases.