Duchenne Muscular Dystrophy (DMD)

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.

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.

This rare disease affects 1 in 3,500- 6,000 males. A key indicator a child has Duchenne is muscle weakness. This means a child may have difficulty getting up after sitting down and difficulty walking. Often times kids with Duchenne are walk on there toes and can

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.

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.

We have many drugs, therapy techniques, and procedures to help slow the progression or help with the pain associated with DMD. There are many varying degrees of severity with DMD and because of this treatment plans vary greatly with the patient's specific needs. Many are given medical interventions to help with mobility. Many use wheelchairs or braces to help them maintain freedom and independance. Drugs like Prednisone, Deflazacort,Cyclosporine and Oxandrolone are used to prolong the ability to walk without aids as much as 5 years. Prednisone is a Corticosteroid that is the most common steriod used to help symptoms of DMD. There is controversy when using this steriod because of the numerous side effects like weight gain, fragile bones, high blood pressure, and behavioral changes. Deflazacort is a synthetic form of Prednisone that has been found to have less side effects. This drug is used in Europe. Cyclosporine is a medication that is very controversial because it's possible it causes myopathy. Oxandrolone is still being researched but it is believed to have similar results as Prednisone with fewer side effects.(National Human Genome Research Institute, 2013) People with DMD may need other medications for secondary issues like asthma, or heart complications. Surgeries are also an option to help correct spinal curvature or fix issues with the heart. Therapies are the most common among all varying degrees of Duchenne Muscular Dystrophy. Range of Motion exercises will help keep flexibility in the affected joints. These exercises will also help to prevent muscle shortening. Low impact exercises like swimming are highly to maintain mobility., flexibility in joints, and strength.(Mayo Clinic,

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).

Duchenne Muscular Dystrophy shows its first symptoms in a boy’s early childhood, usually in preschool. The weaknesses of the skeletal and muscular systems start in the pelvis and progress

Individuals who inherit this disease will have a rapid progression of symptoms. Walking becomes difficult and skeletal contractures and muscle atrophy follows. They also usually need wheelchairs by adolescence. Half of the receivers of the disease unfortunately develop some form of mental retardation and most never make it past their teenage years. Currently, options for a treatment of muscular dystrophy are limited. Physical therapy may slow down the progression of deformities. Such devices as wheel chairs, crutches, or secondary orthopedic limbs may permit mobility. There are also a few medications that can help relieve pain and stiffness in the muscles. The Muscular Dystrophy Association, the Parent Project Muscular Dystrophy Research and the Children's Hospital of Pittsburgh helped fund a research project for the disease. The research, carried out by Johnny Huard, Ph.D., is looking fairly successful. Scientists are isolating special

According to Lewis and associates, DM is a chronic disease that affects multiple body systems. For the purpose of this paper, only DM type 2 will be discussed based

Myotonic Muscular Dystrophy, abbreviated MMD, is a disease that affects the muscles and organs of a body. To break Myotonic Muscular Dystrophy down, the word myotonic is the adjective for myotonia, which is an inability to relax muscles at will. Muscular dystrophy means the gradual muscle degeneration, which weakens and shrinks muscle tissue. Knowing the breakdown of MMD, this disease summed up means a person is restricted to relax their muscles at their own will whenever they would like ("Overview Myotonic Muscular Dystrophy"). MMD is also known as "Steinert Disease", which was named after a German doctor who first described the disorder in 1909 ("Facts About Myotonic Muscular Dystrophy").

Facioscapulohumeral (FSHD) muscular dystrophy- begins among a variety of ages, most commonly the teenage years, but can also begin in adolescence or adulthood. Begins muscle deterioration usually in the face or the shoulders. A sure sign someone is suffering from the FSHD form of muscular dystrophy is that raising their arms will result in their shoulder blades bulging out, similar to

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

Physical therapy can be used to help a child maintain muscle tone, thereby extending their lifespan. For those that do have Duchenne?s muscular dystrophy activity is highly encouraged. Inactivity can worsen the muscle disease. Leg braces can also allow a child with MD to walk independently for a longer period of time.

mutations have been accounts for about five of cases. Several gene gene linked identified since 1993, and current research identified further with MND People with MND may: Develop generalised paralysis (paralysis of both sides of the body) Lose speech and have difficulty swallowing Experience mild cognitive behavioural change Become increasingly dependent on others for all aspects of day-to-day activity Impact of MND on carers As MND progresses, there will be Rapidly changing physical ability of the person with MND, and consequently, increasing assistance required of the carer Increasing levels of support required for the carer and the person living with Motor Neurone Disease Emotional demands of caring and being cared for Treatment for MND