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Polygenetic inheritance
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Understanding Huntington's Disease
Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.
So if one parent has it, and passes the gene on to a child, that child will develop Huntington's disease if they live long enough and each of that child's' children will have a 50% chance of inheriting the gene, and so on and so forth. If you do not have the HD gene you can't pass it on to your children and if your mate doesn't have it then there is no way your child will develop the disease (spontaneous cases of HD are less than 0.1%). There are no "carriers" for Huntington's. HD is present in all areas of the world but is dominant in western Europeans and their descendants. In the United States every 1 in 10,000 people have developed HD, that's 300,000 people with another 150,000 at risk (all of those with children have a 50% chance of passing it on).
The HD gene is present at birth, but doesn't usually develop until a persons thirties or forties. Though this is the most common time for symptoms to develop, there have been cases were symptoms developed as young as 2 and as old as 80. Symptoms begin gradually and increase over time.
Huntington's disease affects three main areas of function: motor (physical), mood (emotional), and cognition (psychological). Motor function disturbances can fall into too much movement and too little movement. Chorea, involuntary dance-like movements, can affect any part of the body. It looks like restlessness, wrigg...
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...l Center: Huntington Disease Clinic web page.
Updated 10-1-01.
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Though Hidradenitis Suppurativa occurs in the glandular areas of the body, it doesn’t have anything to do with the glands. HS develops when hair follicles become blocked and swollen. The direct cause of this blockage is idiopathic but many factors may play a key role, such as, obesity, smoking, hormones and genetics. For reasons unknown women are more likely to inherit or acquire this condition, but that doesn’t mean men can’t develop this issue as well. Most cases tend to develop after puberty occurs, usually in a person’s teens or twenties, though children can develop this condition as well.
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
In hereditary CJD, the infected person has inherited an abnormal gene due a family history of the disease or takes a test in which their results are positive for a genetic mutation that is associated with Creutzfeldt-Jakob disease. About 5 to 10 percent of cases of Creutzfeldt - Jakob disease in the United States are hereditary and the United Kingdom has a population in the region of 58 million and there are only a few instances of deaths due to genetic CJD in a year.
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
Huntington’s disease is of great concern because it is a genetic disease that affects many people worldwide. Huntington’s is described by Wider and Luthi-Carter (2006) as the most prevalent inherited neurodegenerative disorder in humans, affecting between two to eight per 100,000 inhabitants of Western countries. Huntington’s also has a slow onset with an average age of onset around 40 (Wider & Luthi-Carter, 2006). Wider and Luthi-Carter (2006) note the cause of this disease to be a mutation in the huntingtin gene, which can be characterized by distinct symptoms. Chorea, from the Greek “to dance”, is the main distinguishing feature of this mutation and is described by Wider and Luthi-Carter (2006) as rapid involuntary movements that manifest as eyelid elevation, head bobbing, facial grimacing, and jerking of the limbs. Chorea is also noticeable in the way one walks, making an individual move in a zigzag pattern and appear to be thrown off balance by involuntary movements (Wider & Luthi-Carter, 2006). The disease duration is between ten and thirty years and is often first noticed in the early stages by symptoms including attention disorders, personality changes, and alterations in motor control (Wider & Luthi-Carter, 2006).
Huntington’s disease is a genetic neurodegenerative disorder that has a middle-age onset. It is clinically characterized by unwanted movements, behavioral and psychiatric disturbances, and dementia. George Huntington, who first described Huntington’s disease, named it “an insanity which leads to suicide,” (Halpin, 2012). Individuals whom are at-risk or diagnosed with this disease stand in a tough situation in which many decide to commit suicide. There is major controversy on voluntary ways to die with this disease, which include to commit suicide, whether physician-assisted or individually, go under continuous deep sedation, or by euthanasia.
Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the only important manifestation of the disease but several non-motor symptoms are also associated with this disease.[1]
About 30,000 people in the United States have Huntington's Disease, affecting men and women equally among all ethnic and racial backgrounds (helpguide.org). While its more common in adults, juvenile Huntington's occurs in one-sixth of all cases (helpguide.org). Huntington's Disease (HD) is a devastating, hereditary disease that slowly decreases the affected person's capability to walk, talk and reason. Sooner or later, the person with HD becomes completely dependent upon others for his or her care. Huntington's Disease affects the lives of entire families immensely: emotionally, socially and economically. In this research paper, the pathophysiology, manifestation, and medical management of this disease will be examined.
Parkinson's is an idiopathic, multifactorial neurodegenerative disease that attacks neurotransmitters in the brain called dopamine. Dopamine is concentrated in a specific area of the brain called the substantia nigra. The neurotransmitter dopamine is a chemical that regulates muscle movement and emotion. Dopamine is responsible for relaying messages between the substantia nigra and other parts of the brain to control body movement. The death of these neurotransmitters affects the central nervous system. The most common symptoms are movement related, including shaking, rigidity, slowness of movement and difficulty with posture. Behavioral problems may arise as the disease progresses. Due to the loss of dopamine, Parkinson's patients will often experience depression and some compulsive behavior. In advanced stages of the disease dementia will sometimes occur. The implications of the disease on the anatomy and physiology of the respiratory and phonatory systems significantly control speech.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
DID is often caused by severe physical and sexual abuse or emotional traumas during the early developmental stage which is usually before the age of 9 so it is very sensitive. An early important loss, like a loss of a parent or a friend can also be part of how a people develop this disorder. These are few ways people develop this
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Symptoms of the disease vary from person to person. Some people with HD may have a hard time walking, muscle loss or spasms, slurred speech, trying to eat, and swallow. Other symptoms are uncontrollable movements, tremors, depression, irritability,
In the case study of an Italian family where of 288 relatives over 6 generations, 29 are affected by the disorder. The average age of onset of the disease is 49, but this may vary with the individual as with one female who was 61 years of age.