Muscular Dystrophy : A Muscular Disease

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.

Duchenne Muscular Dystrophy is a disease which causes skeletal muscle to waste away, this wasting of muscle is caused by a mutation of the dystrophin gene (Meregalli et al., 2013, p. 4251).

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 (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.

muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.

The use of creditable and appropriate resources is important for educators because all internet should be adept at critically evaluating information (Rankin, Stallings & London, 2005, p.380). To ensure that information is unbiased, accurate, and up to date and clear to the reader the educator should evaluate each resource that is going to be used (Rankin, et al., 2005, p. 280). Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass (Muscular Dystrophy Canada, 2015). The Muscular Dystrophy Canada has developed a web page available for those effected by muscular dystrophy and their caregivers. It is located at the web address www.muscle.ca. Information on this site

Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).

The cause of Duchenne Muscular Dystrophy is the occurrence of mutations in the Dystrophin (DMD) gene. The cytogenetic location off the DMD gene is Xp21.2; meaning at location 21.2 on the short arm of the X chromosome from base pair 31,119,219 to base pair 33,339,609. DMD is the biggest human gene currently known and instructs for the production of a 427 kDa protein by the same name. The dystrophin protein is part of the dystrophin associated protein complex which is expressed at the sarcolema and anchors muscle cellcytoskeletons to the extracellular matrix in skeletal and cardiac muscle,

DMD is an X-linked recessive chromosomal that affects 1 in 5,000 males (Yiu and Kornberg). DMD rarely affects females and when they are affected the severity of the disease is much milder than the male cases (Bushby, Finkel and Birnkrant). The mother is the carrier of the DMD gene in 2/3 of cases and can be genetic. The remaining 1/3 of cases are spontaneous mutations that occur in the mother’s egg (Wong, McClaren and Dalton). Males have a 50% chance of inheriting the mutated gene from their mother and presenting with DMD, daughters have 50% chance of inheriting the gene and being a carrier (carriers may not show symptoms but can pass the mutated gene on to their offspring). Fathers cannot pass the gene on to their sons but will pass it on to their daughters (The Muscular Dystrophy Association). The mutation in the DMD gene disrupts dystrophin production. Dystrophin is a protein that is responsible

In Duchenne Muscular Dystrophy, the protein dystrophin has no function at all. Due to the fact that the protein has always been enabled, it causes the symptoms and diagnosis for Duchenne Muscular Dystrophy to be so severe and worsen quicker (Bushby pp.1). This is harmful because their muscles have no protection. The cells that make up the muscles require this protein to become strong and healthy. In comparison, Becker Muscular Dystrophy has the dystrophin protein who mildly functions. (B 2015 MDA). Since it makes a shortened form of the dystrophin they have much more protection of their muscles compared to a patient who has Duchenne Muscular Dystrophy. Resulting that Becker Muscular Dystrophy is not as severe as having Duchenne Muscular

There is Duchenne, Becker, Congenital, Myotonic, and Limb- Girdle. Duchenne is a type that is the most common. The cause of this is in the legs and the upper arms. As most of these types, Duchenne is more common in young males. With having Duchenne muscular disease, the patient would be in a wheelchair. For Becker’s dystrophy, this is the less severe one. The weakness of the muscles is a slow process. With this disease, the older you are, if a male, the more complications and difficulties the patient would have. Limb girdle dystrophy is muscle weakness around the top of the arms and legs. This type of disease can affect men and women. This muscle dystrophy can cause weakness of the heart as a side effect (Jama Network, Vol 306). Congenital muscular dystrophy is the rare type, and affects babies at birth. Some symptoms of this disease would be poor head control, therefore, this makes the baby seem floppy. The muscle weakness for this disease is severe (virtual database, muscular dystrophy). Learning disorders, poorer outlook or breathing problems are some symptoms for congenital muscular dystrophy. Foremost, Myotonic dystrophy affects the facial muscles. This disease is the relaxation of the muscles after they contract, affecting the central nervous system as well. They first symptoms usually appear in the face or the neck. Some symptoms for this dystrophy would be weight loss, difficulty swallowing, or complications

Muscular dystrophy develops weaker and less muscular mass in a category of diseases. Our healthy muscles need more formulation of proteins. Therefore, this only transpires when genes are imperfect. There are nine major types of muscular dystrophy, which include duchenne, becker, congenital, limb-girdle, facioscapulohumeral, emery-dreifuss, distal, myotonic, and oculopharyngeal. Distinguish decay and reconstruction of the muscle fibers, making the skeletal muscle and muscle proteins weaker. Additionally, killing muscle tissues and cells. Due to all the different types of categories of muscular dystrophy most symptoms start at different ages. The condition does not discriminate it affects males, females, and all races. It does occur more with families who have a history with muscular dystrophy.

Muscular Dystrophy is caused by mutations or defects in the genes responsible for healthy muscle structure and function. The mutations mean that the cells that should maintain your muscles can no longer fulfil this role, leading to muscle weakness and progressive disability. It

This letter is about muscular dystrophy which is a big and dangerous disease, and that you need to organize and make more research about it in order to find cure. It is making muscles weaker and could cause death of cells and tissues( Diseases and Conditions Muscular dystrophy). Muscular Dystrophy has symptoms like progressive muscular wasting, calf deformation, drooping eyelids, atrophy, respiratory difficulty, Inability to walk, poor balance, frequent falls, waddling gait, scoliosis, limited range of movement, joint contractures, cardiomyopathy, arrhythmias, muscle spasms, gowers' sign, all of it is what people become after sometime and it need to be stopped somehow( NINDS Muscular Dystrophy Information Page). In addition it also has many