The Affects of Duchenne Muscular Distrophy

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

Prior to the 1980s, there was minimum knowledge relating to the causes of muscular dystrophy. However, in 1986, researchers discovered a gene, soon to be named dystrophin, on the X chromosome. The gene, when mutated, reacted by causing Duchenne muscular dystrophies. During 1987, the protein in relation to the gene discovered a year early was officially classified and named dystrophin. Duchenne Muscular Dystrophy (DMD) develops due to the mutated gene failure to supply active dystrophin. This minimum amount of dystrophin affects the body by developing muscle damage and continued weakness from early life.

either be “cured” or slowed down and how doctors can and cannot tell which muscular dystrophy

The genetic disease known as Muscular Dystrophy first appeared in history in the year 1830. It was included in a written report by the Scottish Neurologist Sir Charles Bell. The disease soon became more prominent, where it appeared in several medical journals from the 1850’s and onwards. Several young boys were described as having a weakness which progressively worsened, along with problems walking. The disease led to their eventual premature deaths. A French Neurologist known as Guillaume Duchenne studied 13 boys who all had the most common and severe form of Muscular Dystrophy, soon to be known as Duchenne Muscular Dystrophy (NIH 2016). Muscular dystrophy refers to a group of more than 30 genetic diseases including Distal MD, Emery-Dreifuss MD, Facioscapulohumeral MD, Limb-girdle MD, Becker MD, Congenital MD, Myotonic MD and Oculopharyngeal MD. This review however will just focus on Duchenne muscular dystrophy.

Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers

1. The meaning of Duchenne muscular dystrophy is a severe form of muscular dystrophy caused by a genetic defect that can be characterized by a disturbed growth of cardiac and skeletal muscles. It usually affects boys. In 1861, a French neurologist, Guillaume B. Duchenne, was the first person to give a detailed description of this syndrome.

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.

Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of

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)

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.

On very rare occasions when DNA studies do not present a clear picture a muscle biopsy may be required. A small piece of muscle tissue is taken with a needle, usually from the thigh. Using special staining techniques in the laboratory the muscle tissue is examined microscopically for dystrophin protein. In DMD, dystrophin is completely absent while in the related disorder Becker muscular dystrophy some dystrophin is present. Therefore, the muscle biopsy test is important in providing a definite diagnosis when DNA tests are inconclusive.

There are over 30 types of Muscular Dystrophy. I am only going to discuss a few of the most common kinds. The first one I am going to discuss is the most common type and the most severe type of Muscular Dystrophy, Duchene Muscular Dystrophy (DMD). This type of MD affects mostly boys between the ages of 3 and 5 and accounts for over 50% of all cases. This deficiency is caused by a lack of dystrophin, a protein that helps reinforce muscle fibers and shield them from injury. This type of disease progresses very fast and by the age of 12 most can’t walk. Some of the signs you might see in an individual with this disease are falling down, trouble getting up from lying down or sitting position, and a swayed gate. As the disease further progresses they will need to be placed on a respirator which can lead to complications and by their early 20’s most pass away (5).

In most cases it is an X-linked genetic disorder that is carried by the mother but only manifesting in sons. It is caused by a mutated gene and results in low levels of dystrophin. Whereas normal muscles have dystrophin to help keep their shape and strength, those who suffer from MD tend to lack proper levels of this protein or will not be able to produce it at all. According to the Muscular Dystrophy Association, there are nine types of DM, with the two most common types being Duchenne and Becker. The symptoms of each type tend to differ, but Duchenne and Becker have similar signs: muscle weakness in the extremities, difficulty walking, lordotic posture, and enlarged calf muscles. The most easily recognizable sign of MD is a “toe gait,” which is characterized by the patient walking on his/her toes and walking with an abnormal forward curvature of the spine in the lumbar region. This gait is the result of the lower leg muscles compensating for upper leg muscles that no longer function, and the lordotic posture is due to a tilted pelvis caused by weakened muscles around the

Myotonic Dystrophy Type I, also known as Steinert’s disease or Dystrophia Myotonica (abbreviated DM1) is the most common form of muscular dystrophy. Hans Steinert was the first to describe the disease in 1909 when he noted atrophy of multiple muscles in patients with myotonia(Steinberg and Wagner 2008). Batten and Gibb of Britain also described wasting of stenomastoids, vastus internus and forearm muscles as well as difficulty releasing grasp in their 1909 paper (Batten and Gibb 1909). Fleischer in his genealogical examination was first to note that the gene does not cause disease in the first generation. This is followed by occurrence of more symptoms in the succeeding generations, starting with senile cataracts, presenile cataracts and finally muscular atrophy (Harper, Harley et al. 1992).