Duchenne Muscular Dystrophy (DMD)

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

According to the " Muscle Diseases" by Patrick F.Chinnery in the Goldman's Cecil Medicine, 24th Ed 2012, "Duchenne Muscular Dystrophy affects about 1 in 3500 males. About one third of the cases arises from a de novo mutation without a family history."

Listener Relevance: Duchenne Muscular Dystrophy (DMD), is more common than people think and chances are sooner or later you will know of or see somebody affected by this disease.

Occurrence of muscle dystrophy is estimated to be one in 3-4,000 male births. There are also about 15,000 muscular dystrophy patients in the United States today with this disease. Those who have muscular dystrophy are missing the protein called dystrophin. Before scientists ever discovered the missing protein, the tested carriers for the disease had a high presence of elevated serum levels of creatine and phosphokinase. The disease can now be found for a prenatal diagnosis.

Duchenne muscular dystrophy (DMD) is defined as a chronic form of dystrophy that is caused by a mutated gene. This essay critically discusses Duchenne muscular dystrophy as a whole, including all the symptoms, causes as well as treatment.

Even though there are no cures, there are some treatments to slow down the progression of Ben’s DMD. Ben can take certain supplements that will help him function better. One of them is beta-Hydroxy beta methylbutyric acid (HMB). This is an amino acid that helps slow down the degradation of a person’s muscles. However, this has not been studied on DMD. Haelan is another supplement that Ben can take. It will boost Ben’s immune system and give him more energy overall, which will help him live with his condition. Again, this has not been directly tested on DMD. Deflazacort is an over-the counter drug that has anti-inflammatory properties that will preserve Ben’s muscles. This has been proven to prevent/ delay scoliosis as well. Ben could also take Q-10. This is a coenzyme that many people with DMD lack. It will help his cells function

Medications- prednisone (delatsone) and other corticosteroids can help with muscular dystrophy, but can lead to additional problems such as weight gain and bone weakening. Heart medications, like angiotensin converting enzyme (ACE) are recommended if MD is damaging the heart.

Duchenne Muscular Dystrophy (also referred to as DMD) is a type of muscular dystrophy that weakens the muscles that we need to support our body, body weight, to stand, and to move around. It also can cause you to have scoliosis. Some of the main causes for DMD are genetic disorders, mutations, and DMD has to be passed down throughout everyone in that family for generations. The symptoms you can have if you have DMD are weak muscles, lack of strength, and difficulty walking. DMD is a negative mutation because it affects your muscles horribly bad that you can get a disability of walking and even moving. You need to tell your doctor immediately if you experience any symptoms. If you don't tell your doctor, you may find yourself in a very difficult situation where you can't get up or can't get something you need. When you do talk to your doctor, you will have an advantage of getting the help you need.

Usually once atrophy of the hip musculature is noticed, shoulder weakness in noticed also. Those inflicted with DMD will also have trouble with overhead activates, and keeping the shoulders flexed for long periods of time. Scott M. Giles actually lists the following muscles affected by DMD: “Shoulder girdle musculature, pectorals, deltoids, rectus abdominals, gluteals, hamstrings, and calf muscles” 6. DMD patients continue to lose control and strength in their lower extremity musculature and eventually have so much trouble walking they are confined to a wheelchair. There is not a set age where this occurs, but the average is around twelve years old. The DMD muscles involved in eating, drinking, and of the eye are not touched by the disease. They usually do not have any hearing deficits or stroke disorders 1.

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome are most commonly affected

Duchenne Muscular Dystrophy is caused by a defect or a mutation in the DMD gene located in the X chromosome. This gene provides instruction for a protein that helps muscle tissue repair itself known as dystrophin. The absence of this protein is thought to be the cause of all types of muscular dystrophy. The genetic explanation of the defective gene is simple: males have one X and one Y chromosome and females have two X chromosomes, so when a female inherits the mutated gene she has another unchanged X chromosome make her asymptomatic or showing no symptoms or evidence of a disease or disorder. A female with one mutated and one normal gene is labeled a carrier and each child of hers born has a one in two chance of inheriting the gene. On the other hand, males have no extra X chromosome, so they have no protection against the symptoms. Because of these conditions, DMD is classified as an X-linked disorder and this is why DMD only affects boys.

Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.