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Duchenne Muscular Dystrophy

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Melanie Hope

on 13 January 2014

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Transcript of Duchenne Muscular Dystrophy

Contractures
The muscle weakness caused from the lack of dystrophin results in a tightening of the muscles, which leads to a tightening in the joints and tendons. This tightening in the joints and tendons is considered a contracture.
Health Complications
DMD can lead to multiple different major and minor health issues.
Respiratory Complications
How is it Diagnosed?
DMD can be diagnosed in several different ways;
Muscle Biopsy
Blood Testing
Genetic Testing
Osteoporosis
Osteoporosis, similarly to the affect of DMD, is the deterioration of bone density and bone tissue, much like the deterioration of muscle tissue. This deterioration comes from the lack of mobility due to degenerating muscles. However the steroid used to treat DMD also thins the bone density. Osteoporosis can be treated with medications like biphosphonates.
What is it?
Duchenne Muscular Dystrophy is an X-recessive neuromuscular disorder, where from birth the muscles of the body deteriorate progressively resulting in an early death. This disorder is one hundred percent fatal.
Duchenne Muscular Dystrophy
Scoliosis
Scoliosis is a curvature in the spine from side to side, that can develop along with DMD. When the spine curves, ligaments and other tissues are stretched, causing backache, discomfort and great amount of pain. The spine curves to the point of where it deforms the rib cage that can warp the lungs resulting in impairment of the lungs. Scoliosis usually develops two years after wheelchair dependency without treatment.
Complications of the lungs and respiratory system is the leading cause of death in boys with DMD. Typically around the teenage years the muscles in the lungs and throughout the respiratory system begin to weaken. The weakness in the lungs make it difficult to cough and therefore making it difficult to cough up mucus and bacterial germs. Mucus and bacteria sitting in the lungs often leads to chest infections which is not always easily fought off because of the medicine taken to treat DMD.
X-Recessive
The first indicators for DMD being prevalent, are noticeable at an early age. For example a delay in motor milestones.
inability of standing or sitting independently
walking is delayed
running and jumping are very difficult
very low stamina and progressive weakness in legs
Testing for Diagnosis
Muscle Biopsy -
Dystrohpin is the missing gene from the muscle which plays a crucial role in the contraction of the muscle. To test for DMD, a piece of striated muscle can be removed and stained. The stain will appear where the dystrophin is, therefore a lack of appearing stain means a lack of dystrophin and ultimately is an indicator for DMD.
The Cause?
The cause of DMD is a missing gene within the muscle called dystrohpin. Dystrohpin is a protein that plays a huge role in the contraction of muscles and is a binding component in the muscle tissue.
Dystrophin is located between the sarcolemma and the outermost layer of myofilaments in the muscle fiber. It is a cohesive protein, linking actin filaments to another support protein that resides on the inside surface of each muscle fiber's sarcolemma. This support protein on the inside surface of the sarcolemma in turn links to two other consecutive proteins for a total of three linking proteins. The final linking protein is attached to the fibrous endomysium of the entire muscle fiber.
The Cause?
Blood Testing -
In blood testing the doctors will look for the level of creatine kinase or CK in the blood stream. Creatine kinase is an enzyme that is released when the muscles in the body are under trauma, in order to heal the body. Because DMD is constantly deteriorating the muscles, they are always under stress and release an astonishingly high level of creatine kinase. Creatine kinase release can happen from things like contact sports, car accidents, surgery, convulsions or severe burns.
Healthy level = 38 - 174 units/L Level with DMD = 5,000 - 15,000 units/L
Genetic Testing -
Genetic Testing is typically used for determining a child's parentage or generally for a person's ancestry. Typically the two types of genetic testing are DNA sequencing or looking for large changes in the gene such as duplication or deletion. In this case its deletion of the dystrophin gene.
There are three common treatments for scoliosis. To prevent scoliosis, steroid treatment can be used or back braces can be used to maintain a straight posture. Without prevention of scoliosis, it often leads to spinal surgery where screws and rods are placed in the vertebral bodies to correct the curvature.
With DMD, the calves usually show pseudohypertrophy - an enlargement of the gastrocnemius. This enlargement causes a tightening in the joint of the ankle and the Achilles tendon.
Over time the Achilles becomes so tight that it pulls the heel tightly upward into the gastrocnemius, causing the foot to curl inward. This inward curling of the foot can be referred to as club foot. To prevent club foot and prolong the walking ability, orthotic devices like splints and casts can be worn.
Fibrosis
Fibrosis is when fibrotic connective tissue is formed in a reparative or reactive process. In the case of DMD, muscle mass is replaced by the connective tissue.
Obesity - Individuals are prone to becoming overweight because of their inability to exercise. Gaining weight becomes especially prevalent with the use of steroids for treatment. Fibrosis plays a roll in weight gain because the muscle replacement of connective tissue. There is a considerably less amount of muscle in the body which leaves a chance for higher body fat percentage without an ability to burn it off.
Eating
As individuals age they can have difficulty with chewing and swallowing. The esophagus' involuntary muscles become weaker with time, making it difficult to push food from the mouth to the stomach. If this becomes severe enough, a feeding tube may be needed.
Nutrition
Another health complication that can come with DMD is constipation. This is from being immobile which can simply be treated by a high fiber diet or the use of laxatives.
It's recommended that individuals seek nutritional advice in order to maintain a healthy diet that aids to their intricate, specific needs. For example the individual could be taking calcium supplements to prevent osteoporosis, high fiber to prevent constipation and should avoid sugary and fattening foods because they are already prone to obesity.
With the weakened lungs, there is reduced oxygen levels in the blood system due to shallow breathing. Possible symptoms of this are tiredness, irritability, morning headaches, waking at night and vivid dreams. Typically the technique used to prevent this is called "non-invasive ventilation." This is a mask worn over the face and nose which delivers pressurized air. The extra air compensates for the muscle weakness in the lungs needed for breathing.
Cardiomyopathy
Duchenne Muscular Dystrophy can eventually lead to cardiomyopathy which is the measurable deterioration of the function of the heart muscle, often leading to heart failure. Common symptoms are breathlessness and peripheral edema which is a swelling of the legs. In the case of DMD, the lack of oxygen being brought into the lungs is inevitably the main contributor to death. Cardiomyopathy can also be treated with drugs and it is recommended that the individual receives regular check-ups monitoring the heart rate.
Quality of Life
As you can see, a person who suffers from Duchenne Muscular Dystrophy lives a life a battling the odds in order to increase their quality of life. Depending on how much treatment and medication is used, a person with Duchenne Muscular Dystrophy can have a life span of 21 to 27 years old. However in spite of the medications used to directly treat complications, many of them have side effects that can only be treated with more medications. The meds begin to add up to a point of where the individual is solely surviving off an immense amount of drugs and treatments. They live twenty some odd years full of struggles. It is needless to say that even without muscle mass, these people are the some of the strongest individuals ever.
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