IntroWhat is itMuscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement (called voluntary muscles), this happens by genetically modifying genes (whether it is inherited or a mutation) that will interfere with the production of dystrophin proteins which are needed to form healthy muscles.
In some forms of MD, the heart, lungs and other organs may be affected. The most common type is dystrophinopathies which consists of duchenne muscular dystrophy (DMD) and becker muscular dystrophy, both of which result from genetic mutation in the dystrophin gene. In addition to those two, genetic mutations in several other genes are responsible for several dozen other muscular dystrophies.How it worksAlthough MD can be a spontaneous mutation that occurs during childhood, it is generally inherited and different muscular dystrophies follow various inheritance patterns. Muscular dystrophy can he inherited by individuals as an X-linked disorder, a recessive or dominant disorder. Because it is a X-linked disorder and females have two X chromosomes it is very rare for them to get this disorder, however since males only have one X chromosome that means they only have one copy of the dystrophin gene therefore it is more common in males.
How should society deal with this diseaseSociety should deal with this disease by raising awareness amongst the general population because it is important to identify the problem before solving it (solving in this case means curing). For many people who want to raise awareness but do not know how to, there are many things you can do. Such as spreading the word by talking to people, creating/joining foundations that do research to find a cure, marches and encouraging foundations to not only look for a cure, but to help the education system integrate a way so more people can learn about the disease and go into science fields to carry out various researches on the disease. If society does not decrease the amount of muscular dystrophy cases or at least keep it controlled it can get out of hand and be an epidemic.
As of now muscular dystrophy can not be cured because it is a genetic disease but it can be maintained and slowed down, that mean that your muscles will deteriorate at a slower rate allowing you to be able to move for a longer time. This is important because some forms of MD can cause full disability by the age of 12 and cause severe damages to other organs such as your heart and lungs. Another option is that parents can take a genotype(the genetic constitution of an individual organism) test to find out the chances of their children having MD, and if it is a high chance they can avoid that by not having children.HistoryWhen did it startMuscular dystrophy was first described in the 1860s, when descriptions of boys who grew progressively weaker, lost the ability to walk sometimes and some even dying at an early age was becoming published more often in medical journals. French neurologist named Guillaume Duchenne a comprehensive account of what is now the most common type of MD, Duchenne Muscular Dystrophy (DMD), and is named in his honor. It was soon found out that their are many other forms of this disease like, Becker Muscular Dystrophy (BMD) which is named after the discoverer Peter Emil Becker, limb-girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, EDMD, etc.-Signs and symptomsBecause there are various types of muscular dystrophy many of them do have different signs and symptoms, but one thing they all have in common is that they deteriorate skeletal muscles that control movement and some even harm organs. Early symptoms to look for are: a waddling gait, pain and stiffness in the muscles, difficulty sitting up or standing, frequent falls.
-How it is currently being dealt withThe disease is currently being dealt with by trying to minimize the amount of damage it can create by finding it in its early stages. Treatments that are being given are corticosteroid drugs that will help strengthen your muscles and slow down the deterioration, assisted ventilation if you have duchenne muscular dystrophy or emery-dreifuss muscular dystrophy cause it can damage respiratory muscles and physical therapy to learn different exercises to keep muscles strong and flexible.Also, new methods are being made to help society move forward and to cope with muscular dystrophy. An example is gene replacement therapy and altering protein production. Gene replacement therapy attempts to create the missing dystrophin protein. The problems that create is that it is possible for the immune system to repel a new protein and the large size of dystrophin protein needed to be replaced. This new challenge has lead to another approach which targets utrophin production.
Utrophin is a protein similar to dystrophin that is not affected by muscular dystrophy. If utrophin production could be upregulated, the disease might be halted or slowed. Another method is altering protein production which is supposed to make the protein synthesis machinery skip the mutated content and still continue to create dystrophin. Another method researchers are looking at the possibility of inserting muscle stem cells capable of producing the lacking dystrophin protein. Current projects are looking at the most useful type of cells to use and ways in which they could be delivered to skeletal muscle.-Current problems around the world with it-Should we be concerned-What steps are society taking to cope with these new challenges in the conditions and issues of childhood?-Conclusion