Essay On Duchenne Muscular Dystrophy

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.

Credibility Statement: According to the "Muscular Dystrophies" by Harvey B.Sarnat in Nelson Textbook of Pediatrics, 20th Ed 2016, "A muscular dystrophy is distinguished from all other neuromuscular diseases by 4 obligatory criteria: It is a primary myopathy, it has a genetic basis,

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 (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)

Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles. When someone has this disease their muscles do not produce enough dystrophin to stay together. This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until further studies and research are done to find ways to cure this disease.

Nowak KJ, & Davies KE. (2004). Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Reports, 5(9), 872-876. doi:10.1038/sj.embor.7400221

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).

DMD is the biggest (known) gene in the human body. It contains the directions to make the protein dystrophin. Dystrophin is found mostly in skeletal muscles and heart muscles. Modest amounts are present in the brain, in nerve cells also. Dystrophin joins other proteins to form a protein complex, that toil to strengthen muscle fibers and safeguard them from harm. Dystrophin complexes act as anchors (desmosomes), to

Muscular Dystrophy is a genetic disease in which muscle fibers are usually susceptible to damage and cause muscle wasting and weakness. There are bundles of fibers that make up muscles; proteins are involved in these muscles and help to keep the muscle working properly. If

Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth

Even though the annual telethon is over, muscular dystrophy—all nine forms—still exists. MD presents with a combination of muscle weakness and muscle wasting.

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

Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles." Muscular Dystrophy has no cures, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org)

DMD is a disease where the muscles have no dystrophin, one of the proteins responsible for strengthening muscle fibers. As a result, each sarcomere is deformed, the entire muscle is weakened: it can't support the body, it can't move properly, and it is prone to damage.