Huntington’s Disease Huntington’s is named after George Huntington who was the first person to describe the disease in 1872. However it wasn’t until 1993 that the gene that causes Huntington’s was discovered. Huntington’s is an inherited progressive disease that affects the brain and causes severe cognitive decline. The result is involuntary movements, emotional disturbance, damaged perception and memory as well as overall lowered though processing ability. We know that Huntington’s is a genetic disease because in 1993 they found the gene that causes it which happens to be chromosome 4. The function of chromosome 4 is currently unknown, however the defective gene has excessive repetition (from 40 to more than 80 times) of the sequence “CAG”. This results in a malformed protein which is prone to clump in the brain. The clumping causes nearby nerves to die creating the symptoms of Huntington’s. Prior to 1993 they knew it was genetic as it is hereditary. Sadly the Huntington gene is dominant, so each child of a Huntington carrier has a 50% chance of inheriting it. A person with Huntington’s can develop symptoms anywhere in between2 and 80, however symptoms generally appear mid-life. In the case that the child doesn’t copy the defective gene, they will neither get the disease nor be a carrier of it. Back in the 18th century when Huntington’s was first recognised it was still poorly understood, this was due to the fact that people who had the disease died before symptoms
Huntington's Disease is a genetic autosomal disorder which effects the brain. It affects about 1 in 20,000 individuals. The symptoms of the disease do not start to occur until after or around 40 years of age. With the onset of the disease the patient starts to gradually deteriorate intellectually, this deterioration also causes involuntary movements. Scientists have only recently found the section of the gene which causes Huntington's disease, and this is allowed them to devise pre-symptomatic tests. However, a cure for the disease is yet to be found.
Huntington’s Disease is a dominant, autosomal, neurodegenerative disease that results from excess CAG repeats on the human chromosome 4. These CAG repeats code for a protein named Huntingtin, and patients of Huntington's Disease have a mutated form of it. Symptoms begin to appear in one’s middle ages and continue to progress over a span of about 20 years. It leads to loss of mental ability and muscle coordination, as well as increasing one’s vulnerability to depression. Those who develop Huntington’s Disease cannot be cured, but there is treatment to reduce the mental and physical effects. Genetic advancements in both testing and treating Huntington’s Disease have provided hope for families with a history of this disease, but it has
According to Genetic Science Learning Center, it has been stated that approximately 1 in every 30,000 Americans have been affected with Huntington Disease and is considered one of the most common brain disorders due to heredity (Genetic Science Learning Center). This disease was discovered by a 22-year-old American doctor, named George Huntington, in 1872. Huntington wrote a paper called On Chorea which was published in the Medical and Surgical Reporter, and the disorder later become known as Huntington Chorea, but is now commonly known as Huntington Disease (What Is The History of Huntington’s Disease?). Huntington disease-like Syndrome (HDL) is a condition that resembles a lot like Huntington disease (HD) (Huntington disease-like Syndrome).
According to the association that is specialized for Huntington’s disease and facts from the government website of genetic references, those who are affected of the disease are of European descent and three to seven out of 100,000 people are at risk of receiving it. Also, those who are affected and want to have kids have a 50% chance of passing along the disease to their future child(ren). While the disease affects the whole brain there are areas in the brain that are more affected than others. The area that is affected the most is the basal ganglia. It is a group of structures that controls movement and behavior. The disease is displayed due to a mutation in the gene, which is huntingtin. While it is uncertain as to what the gene does, it plays an
Huntington’s disease is a progressive neurodegenerative disease that causes uncontrolled physical movements and mental deterioration. Huntington’s destroys the brain leading to changes in personality and even cognitive functioning. A faulty gene is responsible for this disease. This faulty gene generates a malformed protein which is accountable for the immediate damage. This damage leads to a slow decline and eventually death. Unfortunately there is no cure and only minor treatments to manage
Huntington’s chorea, or more commonly known as Huntington’s disease (HD), is a neurodegenerative disorder that affects both men and women. Although previously thought to be a relatively rare disease, new research discoveries show that it’s actually more common than not; while the onset of symptoms typically occurs in a person’s 40s and 50s, research has also shown that individuals in their 70s, 80s and even 90s have enough repeats in the HTT gene to develop mild HD symptoms. (Samson, 2016) Through the selective degeneration of neurons and with the loss of neurons from the striatum and cerebral cortex, Huntington’s disease affects the nervous system by impacting movement, cognitive abilities, as well as neuropsychiatric symptoms. Unfortunately
Rooting back to the middle ages the now commonly known Huntington’s disease is the cause of death in one out of 15000 people around the globe. The disease’s existence is documented through history under many different names depending on the amount of information that was gathered through the unusual progression of the disease. The disease was referred to as Chorea initially due to the jerky movements of the patients affected by it. The first thorough description of the disease surfaced in 1872 as George Huntington whom the disease is named after today presented a detailed definition of the disease through his first paper. George Huntington was able to accurately detect the pattern of inheritance of an autosomal dominant disease by examining the combined medical histories of a family that clearly suffered from the disease through generations. The disease could not be studied further until the rediscovery of the Mendelian Inheritance in the 20th century that allowed scientist to look further into the autosomal dominant disease.
Huntington’s disease, also known as Huntington’s chorea, is a rare pathology among the nervous system. With fewer than 200,000 US cases per year is an inherited condition in which nerve cells in the brain break down over a period of time. This disease will usually start to effect people when they are in their 30s or 40s. Huntington’s usually results in psychiatric symptoms, progressive movement and thinking. No cure to this disease exists but physical therapy, drugs, and talk therapy can help manage symptoms.
Huntington’s disease, or Huntington’s chorea, is a neurodegenerative genetic disorder that affects muscle proficiency and proceeds to psychological decline and behavioral symptoms (Huntington’s Society, 2013). Symptoms are similar to what is seen with Parkinson’s disease, nevertheless they vary between different individuals and its progression is almost always foreseeable. Those who are suffering from Huntington’s often see symptoms anywhere between the ages of 30-50, however it has been seen in individuals as young as two and as old as 70( Huntington’s Society, 2013). Along with the progression of the disease the severity of the symptoms increase and can be separated into three different stages. In the first stage there are usually slight uncontrolled muscle movements, lack of concentration and mood changes. As the severity worsens they may need assistance proceeding with everyday activities such as walking talking and even swallowing. Irregular jerking movements of the limbs are more consistent and more noticeable to others. In
Huntington’s Disease is a genetic disorder that causes the breakdown of the nerves cells in the brain. It is eventually fatal, and deteriorates a person’s abilities mentally and physically. There is currently no known cure for Huntington’s Disease.
Huntington’s is a hereditary disease. A crucial part of the diagnosis process is to take a family history. The most efficient way to determine if the individual has this disease would be a DNA determination, showing a CAG repeat of at least 36 on the huntingtin gene that is located on chromosome 4. In most cases, the three main signs of this disease is present in the individuals. More studies are known to use biomarkers to determine the parameter’s as well. More studies are starting to focus on changes in function and changes in the brain images by the use of an MRI. Earlier we stated on how a prominent sign of this disease would be motor dysfunctions, such as chorea. Chorea is due to neurological damage in the brain resulting in altered gait.
Huntington's Disease causes the progressive breakdown (Degeneration) of nerve cells in the brain. Huntington's disease has a big impact on a person's functional abilities and usually results in movement, thinking, and psychiatric disorders. When the disease develops before age 20, the condition is called juvenile Huntington's disease. An earlier emergence of the disease often results in a somewhat different set of indications and faster disease progression. Huntington’s Disease mostly causes movement, thinking, and psychiatric disorders with a wide spectrum of signs and symptoms. Some symptoms include Movement Disorders which can lead to involuntary jerking or writhing movements and difficulty with the physical production of speech or swallowing. Thinking Disorders which make you have a lack of awareness of one's own behaviors/abilities and slowness in processing thoughts or have trouble finding words. It also can make you have Psychiatric Disorders which can make you have a feeling of sadness or irritability, Fatigue, and loss of energy, and frequent thoughts of death, dying or suicide. Now for the causes of disease, Huntington's disease is caused by an inherited defect in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disease. With the exception of genes on the sex chromosomes, A person inherits two copies of every gene, one copy from mom and one from dad. A parent with a defective gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, Therefore, Has a 50 percent chance of inheriting the gene that causes the Genetic
Having Huntington's disease if very serious and over time can kill you. Huntington's disease is where your nerve cells in your brain slowly start to die off. When lots of your nerve cells die you get chorea. You’ll have random jerks in movement on the face, arms, neck. You will have a loss of mental function as well. This disease is genetically passed down too. The major cause is the abnormal huntingtin (mHtt) with more than 36 glutamine residues. The mHTT gene gives instructions for creating a protein called huntingtin. The gene's role is in the nerve cells in the brain. The symptoms of Huntington’s disease occur in personality, behavior and mental function. Common symptoms are hallucinations, depression, being irritable, not being able to remember, uncontrolled jerking movements. and loss of balance.
genetic disorder that many are unaware of or oblivious to the detrimental effects it can have on someone. This disease was named after Dr. George Huntington due to his discovery of these weird movements that were found in patients with this disease (Genetic Science). Approximately one in thirty thousand people in the United States currently have this disease in the United States (Genetic Science). For many, that may not be much of a number compared to other cancers and genetic disorder, but considering the detrimental symptoms that greatly shorten one’s life in this disease, it is a serious problem. In fact, patients with Huntington’s have proteins that accumulate in one’s brain, becoming toxic and eventually resulting in cell death
A disease that causes a person to lose control of basically all of their functions is a very serious problem. Huntington’s Disease causes a person to over time lose control of their functions, including cognitive and motor functions. The disease is named after a man named George Huntington in 1872. He discovered that this was a hereditary disease. In the late 20th century, another group discovered the specific gene that causes Huntington’s. It was found that the 4th chromosome is the gene that mutates to cause Huntington’s. This disease is not a very common one, resulting in approximately .003-.007 percent of the population.