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.…
The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the…
CYSTIC FIBROSIS. Many humans around the world are carriers of a genetic component that can cause their dependents to be born with a genetic disease that can affect their lives forever. Some of these conditions are currently under investigation by facilities which specialise in genetics testing. Cystic Fibrosis is one of many genetic disorders that can affect devilry the patient and their everyday life.…
Genetics is random, for an example, if the mom or dad has it, the children will have a fifty fifty chance of getting it, but things will be different if the disorder alleles is dominant. According to the table of Huffman and Sanderson (2014), “Relationship to person with…
Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period. People who have Huntington's disease usually have mood swings and changes, they often will get depressed, have anxiety, and irritable moods. People with Cognitive Disorders from HD have difficulties focusing and concentrating learning new things and can have outbursts out of nowhere. HD can cause clumsiness, loss of short term memory, weight loss, and other symptoms. People with HD may eventually need full nursing care.…
Huntington’s Disease (HD or HTT), also known as Huntington’s Chorea, is a deadly autosomal dominant inherited neurodengerative disease that causes progressive deterioration of the nerve cells in the brain. HD is distinguished by continuous motor, behavioral and cognitive decline, eventually ending in death. Huntington’s Disease weakens the individuals physical and psychological abilities throughout their prime. Every offspring has a 50/50 chance of carrying the defective gene. There are roughly 30,000 Americans with the symptoms, and more than 200,000 at risk of getting the disease.…
Huntington’s disease (HD) is one of many neurological conditions that exist and is prevalent in about 7 people per 100,000 (Lundy-Ekman, 2013, p. 245). It is more commonly seen areas of a predominantly white population, such as Europe, North America, as well as Australia, due to a higher frequency of certain alleles that are repeated in these populations (Walker, 2007, p. 221). This disease is classified as a neurodegenerative disorder, which is a term that is used to describe CNS disorders/diseases that are progressive (Damjanov, 2012, p. 465). These disorders typically present many different neurologic and psychiatric symptoms, such as “abnormal body movements and progressive mental deterioration”, and it is also possible to have either…
My diseases are Huntington’s disease and gouty arthritis. If someone in your family has Huntington's disease it's a great chance you have that disease. Huntington's disease is a rare genetic disease that hits in your middle ages, that's why it's good to know the signs, symptoms, treatments, preventions , and background information. Agonizing pain in your big toe is one of the leading signs of gouty arthritis or gout. If you're a male and after the age of 30 you should know the signs, symptoms, treatments, preventions, and background information so it won't happen to you.…
CSD 3150: Hyperkinetic Dysarthria of Huntington’s disease Huntington’s disease is a disorder that can be inherited through a defect in a gene in which there is a progressive degeneration of the brain cells. A person’s motor will become impaired, with many moments of uncontrolled involuntary movements such as jerking, imbalance and posture issues, as well as speech and swallowing issues. However, the severity of this disease varies with different stages (asha.org). Cognition is also an issue, where memory, reasoning, and problem solving, to name a few, worsen over time.…
Huntington’s Disease Huntington’s disease is a serious, dominant genetic disorder in which the nerve cells in a person’s brain degenerate over time. A wide range of symptoms can arise for individuals with this disease. Cognitive, physical, and psychiatric disorders appear over the course of the life of someone with Huntington’s. There is no cure for this disease, but medication can help manage the symptoms.…
Definition: Huntington’s disease is a brain disorder which affects human’s health and causes movements disorders, emotional problems and other symptoms (1). It is also known as an autosomal dominant disease, which means that disorder can be passed down through families and their children. So, if the parent has Huntington's disease, their children will have a chance of having the disease (2). However, people can have this disease at any time in their life even if they were healthy and had no noticeable symptoms (3). Who is at risk?…
Therefore, genetic disorder will not be inherited. Moreover, almost all genetic diseases are curable with gene therapy. For example, hemophilia is a genetic disorder in which missing proteins help blood to form clots. Patients diagnosed with hemophilia can lose large amounts of blood through internal bleeding and even minor cuts. In 2011, Sebastian Misztal was a patient suffering from hemophilia.…
Huntington's disease influences the piece of the cerebrum that controls consider, feeling, and development. People usually live 15-20 years after first being diagnosed with ‘Huntington’s disease and European descendants are more likely’ ( ) to be affected by this illness. Side effects include poor subconsciousness, misery and/or emotional episodes, absence of coordination, jerking and muscle fits and muscle contractions which means they unintentionally quiver. They also have other uncontrolled movement , and trouble walking, talking, and/or gulping food which implies that they need to eat mashed sustenance which allows them to process food effectively . Overall due to HD patients having their identity changed making their performance become very distinctive.…
What is Genetics? Genetic Diseases A genetic disease involves an abnormality in genetic material. Otherwise, there could be mutations or changes in an organism’s DNA. A genetic disease can be inherited through a family.…
Everyone is made up of their parent’s genes like it or not. Everything about a person comes from their parents to create their DNA. There is good and bad to genetics being passed down. Genes can have many diseases and disorders passed down, there is a way to parents prepare for these problems and prevent these issues. What problems can genetic testing solve?…