Research Paper On Muscular Dystrophy

Muscular Dystrophy, also referred to as “MD”, is a group of diseases that cause progressive weakness and loss of muscle mass (Mayo). In MD, abnormal genes interfere with the production of proteins needed to form the muscle’s health (Mayo). There are many long-term effects to this terrifying disease. The primary one, that being unable to walk. Muscular Dystrophy is a life-threatening disease that many pose questions and desire to learn more about.
Muscular Dystrophy occurs in various forms. While the disease occurs primarily in males, it affects both sexes and also all ages and races (Mayo). The most common type of MD, Duchenne, is seen affected only in younger boys (Mayo). If a family member has had an encounter with Duchenne muscular
dystrophy, the other family members are at risk for the disease as well as their children (Mayo). There are not many cases per year, however many struggle to fight off this disease (Mayo). Although there are many types of MD, they are categorized into nine main titles (Mayo). These nine include Duchenne, Congenital, Myotonic Dystrophy, Becker, Limb-girdle, Facioscapulohumeral, Oculopharyngeal, Distal, and Emery-Dreifuss (Mayo). Some main differences between the nine types are severity, sex, age, and location of the body.
Duchenne (DMD), is the most common type of muscular dystrophy in children (MD types).
Duchenne affects one in every three-thousand and five-hundred live male births (Duchenne). There are 20,000 new cases each year across the world (Duchenne). The Duchenne gene is found on the X-chromosome, meaning that it primarily affects boys (Duchenne). It also occurs across all races and cultures. Duchenne results in progressive loss of strength. This loss of strength is caused by a mutation in the gene that encodes for dystrophin (Duchenne). Due to the absence of dystrophin, muscle cells are damaged often (Duchenne). Dystrophin binds to the muscle membrane and helps to maintain structure of muscle cells (Duchenne). Without this crucial gene, muscles cannot operate correctly, leading to progressive damage and then later, death (Duchenne). The weakness of the muscles lead to serious medical problems, primarily the lungs and heart (Duchenne). Men affected by DMD generally live into their late twenties (Duchenne). Duchenne can be passed genetically from parent to child (Duchenne). However, thirty-five percent of cases occur due to random spontaneous mutation (Duchenne). There are medical treatments that may help fight the disease, but there is no known cure for Duchenne (Duchenne).
There are many signs when Duchenne muscular dystrophy is present. In some cases, the babies might have trouble lifting their neck or even holding it upright (Duchenne). Another warning is if the baby
cannot walk within the first fifteen months of birth (Duchenne). However, if the child can in fact walk, they might still find it difficult. They can be seen walking on their toes, have their legs spread apart, and even walk with the chest pointed outwards (Duchenne). If any of these signs occur with a newborn boy, he should be treated for Duchenne. Signs can also occur later in life.

Boys affected by Duchenne can or will lose the ability to walk in their teenage years (Duchenne). This age usually is between ten and fourteen (Duchenne). By this age, upper body strength in the arms are weakened and use of the arms are limited too, if not completely usable (Duchenne). Another major issue with DMD is severe cardiac problems. Between the ages of ten and fourteen, boys affected need help breathing specifically at nighttime (Duchenne). The respiratory system continues to weaken over the course of these young men’s lives and that results in death mainly seen in the twenties and in rare cases, the early thirties (Duchenne).
Although there is no cure for Duchenne, treatment includes therapy and medication.
One common prescription given to patients with DMD is called Prednisone, also referred to as Deltasone (Mayo). This helps prolong the diseases’ symptoms, but does not permanently stop the disease forever. Also, someone with this disease can see many specialists including a medical geneticist who diagnoses and then helps treat hereditary diseases, an occupational therapist to help improve general daily living, a neurologist to help with the nervous system in other forms of muscular dystrophy, and even pediatricians that can help assist the children in times of poor health by providing the right medical care
(Mayo).
Many questions may be asked when someone is diagnosed with Duchenne muscular dystrophy. Its rarity is unknown, because although it is said to be genetic, it can also occur at random to any young boy in his childhood. Since there is no cure for this life threatening disease, medical doctors find it harder to treat. Boys affected by DMD can only receive the aid and treatment provided to them and then hope that one day doctors find a cure for their life affecting disease.