Essay On Myotonic Dystrophy

The chart below shows the electromyogram results from the study showing neuromyotonic discharges. The discharges are the burst of spontaneous motor units as doublet, triplet, and multiplet release of high intraburst frequency. These discharge were found in every patient, even the one who showed no observable movement (Panagariya385).

• Doing strength and range-of-motion exercises (physical therapy) as told by your health care provider.

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,

First Main Point: Duchenne Muscular Dystrophy is an awful disease that absolutely needs new treatment options.

Duchenne Muscular Dystrophy is the most common muscular dystrophy disorder. In the United States DMD affects 1 in 3,500 males. 2/3 of those cases are passed down for the mothers and 1/3 are random mutations. Internationally the statistics are similar. (Medscape, 2015)

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.

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome are most commonly affected

Duchenne muscular dystrophy, classified as a genetic disorder, is marked by progressive muscle degeneration and weakness. It is only one of the nine forms of muscular dystrophy; however, around half of the people diagnosed with muscular dystrophy have Duchenne muscular dystrophy.

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.

Duchenne’s muscular dystrophy (DMD) is a progressive genetic disorder that leads to muscle atrophy and eventually death. Diagnosing DMD consists of blood tests, genetic testing, and muscle biopsies. Signs and symptoms begin presenting in toddlers with DMD and progressively worsen throughout life. There is no cure for DMD, and will cause terminal cardiopulmonary complications. Medical interventions consist of corticosteroid treatment, respiratory management, cardiac management, psychological management, and physical therapy interventions.

Currently, there are 9 major forms of muscular dystrophy which include: Myotonic, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss, and Duchenne muscular dystrophy (Mayo Clinic, 2014). For the purpose of this paper, the cause, as well as the impact of Duchenne muscular dystrophy on development, will be discussed.

Pathophysiology: This form of muscular disease is caused by a deficiency in motor neuron proteins called SMN or survival of motor neurons. These proteins are necessary for normal motor neuron function. The deficiency is caused by a mutation on chromosome 5 in the gene called SMN1 most commonly. The adjacent SMN2 genes can sometimes compensate for deficient SMN1 genes. Recent research has found that the lack of SMN may, also, affect muscle tissue directly and not just motor neurons.

central nervous system disorders such as cerebral palsy and spinal cord injury (spina bifida); motor neuron disorders such as spinal muscular atrophy; peripheral nerve disorders such as Charcot-Marie-Tooth disease; neuromuscular junction disorders such as congenital myasthenia gravis; and muscle fiber disorders such as Duchenne's muscular dystrophy currently have no known definitive treatments or cures (p. 163).

Muscular dystrophy is a genetic disorder that causes progressive deterioration of muscles. This essay is going to focus on Duchenne Muscular Dystrophy (DMD) as it is the most common type of muscular dystrophy in Australia and throughout the world. It is also one of the most severe forms, with many patients in wheelchairs by their mid-teens (Muscular Dystrophy Foundation, 2014). It is estimated that DMD affects 1 in 5000 boys and patients will present with symptoms around the age of 4. Patients may have a range of symptoms including; motor delays, abnormal walking, difficulty getting off the ground, frequent falls and learning difficulties. Eventually DMD can manifest into cardiac and respiratory problems (Yiu and Kornberg, 2015).