Preview

Essay On Myotonic Dystrophy

Good Essays
Open Document
Open Document
725 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Essay On Myotonic Dystrophy
Roshan Mathew
Myotonic Muscular Dystrophy
10/28/14

Myotonic muscular dystrophy is part of a group of muscular disorders that are called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. “Myotonic dystrophy is characterized by progressive muscle wasting and weakness” (Myotonic, 2010). typically people who have this disorder have whats called myotonia, a prolonged muscle contraction, and they are not able to relax some muscles. For example, someone with myotonic dystrophy may have difficulty releasing their grip on a doorknob or handle. Sometimes, they have slurred speech or locking of their jaws for a certain time. Some other signs and symptoms of myotonic dystrophy include
…show more content…
It usually develops around a person 's twenties or thirties. “There are also two types of myotonic dystrophy, type 1 and type 2. The muscle weaknesses that are associated with type 1 affects the lower legs, hands, neck, and face. Muscle weakness in type 2 involves muscles of the neck, shoulders, elbows, and hips. These two types are caused by mutations in the different genes” (Hopkins, 1997). It affects about 1 in 8000 people worldwide. It is passed to you through your parents. MDA leads the search for treatment and therapies for myotonic muscular dystrophy. The association provides support and expert clinical care for those with MMD. “MDA has found that MMD has three types, adult onset MMD1 and MMD2, juvenile onset MMD1, and congenital onset MMD1” (Balon, 2013). I was able to go to MDA camp this year. I was truly blessed by it and amazed at how remarkable it is. These kids love coming to the camp to connect with each other. MDA does a wondrous thing for these kids. Most of these kids cannot walk and are in a power chair, or they can walk with their braces on. You have to lift them using proper body mechanics and always support their neck from injury. You will have to provide self care such as cleaning, clothing, bathing, toileting, brushing

You May Also Find These Documents Helpful

  • Good Essays

    Case Study 4

    • 1348 Words
    • 5 Pages

    Because motor neurons degenerate with ALS, they can no longer send impulses to the muscle fibers that normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to become smaller. Therefore limbs begin to look "thinner" as muscle tissue atrophies.…

    • 1348 Words
    • 5 Pages
    Good Essays
  • Powerful Essays

    Pt1420 Final Exam

    • 3892 Words
    • 16 Pages

    - myotonic- most common form in adults- affects both men and women; prolonged spasm or…

    • 3892 Words
    • 16 Pages
    Powerful Essays
  • Good Essays

    Scapular dyskinesia is close to me due to its relation with my family. My brother has scapular dyskinesis due to his athletic endeavors in swimming and possibly due to some genetic factors that run in our family. This abnormal scapulohumeral rhythm is seen in shoulder instability, at a rate of 67%, and in shoulder impingement, at a rate of 100%. Shoulder injuries tend to be prevalent at a high rate in today’s population due to impact sports, accidents, and ever increasing elderly population. Although seen very frequently in shoulder instability and impingement, there are no statistics on the incidence of this condition as a whole.…

    • 1154 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate of progression. In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsen rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence. The signs and symptoms of Becker muscular dystrophy are usually milder and more varied. In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate.…

    • 1511 Words
    • 6 Pages
    Good Essays
  • Good Essays

    Duchenne MD is the most common muscle dystrophy. Due to the way the disease is acquired, it generally influences young men. It is conceivable…

    • 884 Words
    • 4 Pages
    Good Essays
  • Satisfactory Essays

    Spinal muscular atrophy [SMA] is a disorder in which, you have a loss of motor neurons. Your muscle symmetry is often off. In addition, there is muscle weakness in your spinal cord. This occurs in a hard time sitting up and holding your head up on your own. It is just like when you are a newborn and you need a pillow to sit on the couch. A few major causes of SMA are loss of motor neuron cells or nerve cell. This mutation leads to a deficiency of motor neuron cells or nerve cells. The disorder SMA is tied to the gene "SMN1" and tied to chromosome 5. A few symptoms of this disorder are- difficulty breathing lack of oxygen, difficulty eating, floppy posture, small amount of movement, and all these symptoms will gradually get worse over time. All these symptoms are at about a mild level in the beginning.…

    • 417 Words
    • 2 Pages
    Satisfactory Essays
  • Better Essays

    Duchenne muscular dystrophy also known as DMD is a rare genetic condition that could affects all race and cultures; mostly boys. Duchenne muscular dystrophy affects 1 in 500 boys in approximation. According to muscular dystrophy association 20,000 children are born with DMD worldwide and approximately, 35% are as a result of spontaneous genetic mutation (2014). The disease is an X-linked recessive inheritance that the mother passed it on. DMD has a progressive muscular degeneration and weakness and it is one of the nine types of muscular…

    • 1130 Words
    • 5 Pages
    Better Essays
  • Good Essays

    Duchenne Muscular Dystrophy is a dangerous and rare disorder. It’s transferred through family generations because it’s a genetic disease. In addition, Duchenne Muscular Dystrophy is referred to by other names including DMD, Duchenne Syndrome, and Pseudohypertrophy. DMD is when the body cannot make dystrophin so it results in muscle weakness.…

    • 1141 Words
    • 5 Pages
    Good Essays
  • Better Essays

    Myasthenia Gravis

    • 1358 Words
    • 6 Pages

    Myasthenia gravis is a chronic, progressive neuromuscular, autoimmune disease marked by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The body’s immune system attacks and destroys receptors in the muscles. These receptors bind acetylcholine, the neurotransmitter released from motor neurons. (Turkington & Harris, 2009) The main calling card of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Muscles that control eye and eyelid movements, facial expression, chewing, talking, and swallowing are often, but not always, involved. The muscles that control breathing and neck and limb movements may also be affected. (Beers, 2003)…

    • 1358 Words
    • 6 Pages
    Better Essays
  • Satisfactory Essays

    Duchenne muscular dystrophy is a genetically inherited disease that causes progressive muscle and bones weakness. The symptoms usually appear before age 6 and may appear as early as infancy. Symptoms can be noticed very early like not sitting and standing independently at the correct age. The age for walking for boys with Duchenne muscular dystrophy is around 18 months. There is progressive muscle weakness of the legs and pelvic muscles, which is caused by a loss of muscle mass. This muscle weakness can cause difficulty climbing stairs. Most Symptoms appear in boys ages 1-6. Because of muscle damage kids Might need braces by the age of 10 and by age of 12 be in be wheelchair. The amount of people using wheelchairs because of duchenne muscular dystrophy is around, 29% of males 5 through 9 years of age, 82% of males 10 through 14 years of age and more than 90% of males 15 through 24 years of age.…

    • 315 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Hypokalemic periodic paralysis is a rare, autosomal dominant channelopathy characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood (primarily due to defect in a voltage-gated calcium channel). In individuals with this mutation, attacks often begin in adolescence and are triggered by strenuous exercise followed by rest, high carbohydrate meals, meals with high sodium content, sudden changes in temperature, and even excitement, noise or flashing lights. Weakness may be mild and limited to certain muscle groups, or more severe full body paralysis. Attacks may last for a few hours or persist for several days. Recovery is usually sudden when it occurs, due to release of potassium from swollen muscles as they recover.…

    • 426 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Because patients with muscular dystrophy are especially susceptible to muscle damage, Physical Therapists, who are skilled in the involvement of skeletal muscle and the effects that skeletal muscle has on joints, are Ideal clinicians to care for patients with muscular dystrophy. 2 Physical therapy is most successful when it is began as soon as possible, preferably right after receiving a diagnosis. This way the physical therapist can teach skills and begin interventions before severe joint tightness, muscle tightness, or contractures develop. 1,2 “Light to moderate exercise has been shown to be benefit patients with muscular dystrophy by slowing down the progression of muscle weakness”, however “Over exercising can damage muscles.” 1,2 Maximal…

    • 483 Words
    • 2 Pages
    Good Essays
  • Satisfactory Essays

    Essay On Myositis

    • 445 Words
    • 2 Pages

    Myositis is inflammation of the muscles under your skin. Myositis is cause by anything that can lead to inflammation in the muscles. Myositis causes the body to become inflamed which normally follows with pain, swelling and red or very painful muscles. Mitosis can be from many different sources, many are known for being autoimmune conditions. Mitosis can cause the body will begin to attack itself. Your body will start to attack its own tissues, trying to protect itself from a harmless disease. But there really isn’t a disease it needs to be defending at the time.…

    • 445 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    Myasthenia Gravis is an autoimmune disease that targets the neuromuscular junctions causing leading problems for the muscular system. This disease is long term with no cure but doctors are able to regulate this disease with controlled medicine.This disease results from antibodies that block or destroy receptors at the junction between the nerve and muscle.In rare cases, children are born with this disease also known as congenital myasthenia syndrome.The most commonly affected muscles are in the face,eyes or even in extreme cases muscles that allow you to swallow. The results from that can be droopy eyelids, double vision, trouble communicating or trouble walking. Symptoms of this disease may be trouble swallowing, fatigued muscles after short…

    • 409 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Genetic Disorder Essay

    • 595 Words
    • 3 Pages

    Genes are codes for certain function that are found in DNA. The combination of genes is what makes each individual unique. MCADD is a genetic disorder, caused by a mutation or damage to the gene, ACADM, that codes for the enzyme, medium chain acyl CoA dehydrogenase. This results in the enzyme being absent or existing in minimal quantities. An enzyme increases the rate of a chemical reaction. Our body needs many enzymes in order to make the materials needed for our bodies to function and be healthy. The mutation that causes this disease is most often a nucleotide base replacement, occurring at the 985th position. Nucleotides are the basic units that make up nucleic acids like DNA. The replacement that is most common is the replacement of a…

    • 595 Words
    • 3 Pages
    Good Essays