My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA.…
1. What is the genome? The genome is an organism’s complete set of DNA and vary widely in size. 2.…
In Thomsen's Disease, the cause is due to a mutation in the CLCN1 gene by autosomal dominant pattern (Myotonia congenita 2007). The CLCN1 gene regulates the flow of negatively charged chloride ions into and out of the muscle fibers (Myotonia congenita 2007). This is important in muscle contraction and relaxation (Myotonia congenita 2007). Therefore, when the CLCN1 gene is impaired, it cause myotonia (Myotonia congenita 2007). The levels of myotonia in Thomsen's Disease range from grade 1 to grade 3 (Colding-Jorgensen 2005).…
The protein that was concluded was dystrophin. The disease that is associated with this protein is Duchenne. Duchenne is referred to as DMD and is associated with muscular dystrophy. DMD is one of the most common gene malfunctions and is causes by having a problem with a gene which makes up the dystrophin protein. Gupta (2014) explained that when the protein is functioning properly, muscle cells are able to keep their shape and strength, but without it they can begin to break down and become weaker over time.…
Duchenne Muscular Dystrophy Do you know what duchenne muscular dystrophy is? It obviously has something to do with your muscles it causes you to have muscle weakness which can lead you to have loss of mobility. This disease is most effective for males. Duchenne muscular dystrophy is a mutation, flaw or gene.…
There are several different mutations of this gene that…
160116 Duchenne Muscular Dystrophy “Muscular dystrophy (MD) is a genetic disease characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement” (Muscular dystrophy, 2013). Muscular dystrophy is classified into nine major types that each affect specific muscle groups, certain age groups and are identified by different signals. Duchenne muscular dystrophy most commonly affects males and is targeted at younger children (Facts about Muscular Dystrophy, 2015). “The Centers for Disease Control and Prevention estimated that 1 out every 5,600 to 7,700 males between the age of 5-24 has DMD” (Seiner, Duchenne Muscular Dystrophy).…
Muscular Dystrophy Muscular Dystrophy is a group of disorders characterized by a progressive loss of muscle mass and consequent loss of strength. There are multiple types of muscular dystrophy, each type affecting a different part of the body. Examples would be Duchenne muscular dystrophy, which effects toddlers starting from their third birthday and causing them to be in a wheel chair by the time they are 12 and usually dying from respiratory failure in their late twenties, early thirties. Becker muscular dystrophy is similar to Duchenne, it just starts later on in life and has a slower attack, most die in their mid forties.…
In this essay I will talk about diseases that affect the nervous and the muscular system. For the nervous I had pit Dementia. Dementia is a syndrome that affects the brain, it starts in the memory, patient with this syndrome star by experience forcedness they cannot reminder where they place there keys, or become unfamiliar with their own homes. And for the muscular system I had pit Myasthenia Gravis. Myasthenia Gravis also known as MG was discovered in 1972.…
Myasthenia gravis is an autoimmune disease that prevents proper conduction of impulses at the neuromuscular junction of voluntary muscles. The immune system produces defective antibodies that bind to receptor sites at the neuromuscular junction usually reserved for the neurotransmitter acetylcholine (Conti-Fine 2006). In individuals with myasthenia gravis, up to 80% of these sites can be taken up by antibodies. Because these sites are already occupied, acetylcholine is unable to play its part in the transmission of the nerve impulse to the muscle. This ultimately leads to muscle weakness, the hallmark symptom of myasthenia gravis (Trouth 2012).…
I have a strange infatuation with diseases. I love to see diseases, analyze them, understand the symptoms that define them, but most importantly, discover if and how the ailment can be cured. One disease that has recently become a focus in my life, is one I have personally entitled African American Dystrophy; a disorder characterized by the weakening, degeneration, or abnormal development of a people. It is a disease that has been metastasizing this country since I was young. Spreading rapidly, appearing benign in its beginning stages, but soon growing malignant with increased inattention and neglect.…
Duchenne’s muscular dystrophy Duchenne’s Muscular Dystrophy Zachary Uecker Genetic Disease Abstract Duchenne’s muscular dystrophy is a genetic disease that targets skeletal muscles and over time, the muscles lose protein and are replaced by fats and connective tissue, making the skeletal muscles unusable. In this paper, the parts of Duchenne’s that will be covered are the method of transmission, statistics about Duchenne’s in the population, the pathophysiology, the body systems effected, signs and symptoms, age of onset, treatment/therapy options, psychological factors, prognosis, prevention techniques, ethical considerations, and how genetic counseling may be utilized for patients.…
It had been determined that specific types of Muscular Dystrophy only affect men. For instance the Duchenne is most commonly known for affecting young children, but Duchenne muscular dystrophy is also know to only affect makes. This type of condition and reductions the muscle in mass and causes it to diminish and become weaker and weaker. This disorder is know to have significant affects on young boy, and by the age of 12 they will require the use of a wheel hair. With time the limbs and spin will become considerably mutilated and there by become compromised.…
In the past five years, scientists have identified a number of rare gene changes or mutations that are now connected…
This disorder affects muscle tissues, leading to problems with organs. Rarely will affected individuals live past their late twenties. (Morgenroth, Hache, and Clemens, 2012) Dystrophin is part of the dystrophin-associated glycoprotein complex (a protein complex) that plays the role of an anchor, linking every muscle…