Huntington's+Chorea

Huntington’s Chorea  **What type of Genetic disorder is it?:** Huntington’s chorea is a an inherited condition caused by a single abnormal, dominant gene. It is referred to as autosomal dominant because only one of the defective genes needs to be passed down in order for a child to receive the disease. If any one of the parents has the gene, there is a 50/50 chance they will pass it on to their children. However, the symptoms associated with the disorder will typically not begin to appear until middle age, oftentimes after people have had children. Since the disease is the result of a genetic mutation and then is passed down, there are very rare cases when the disease is a direct result of that mutation and not a genetic inheritance.

· Personality Changes  o Depression  o Anger  o Irritability · Decreased cognitive abilities · Mild balance problems · Clumsiness · Involuntary facial movements (grimacing) · Sudden, involuntary, jerky movements throughout body (chorea) · Sever coordination and balance problems · Difficulty shifting gaze without moving head · Slurred speech · Swallowing problems <span style="font-family: Symbol; mso-list: Ignore; msofareastfontfamily: Symbol; msobidifontfamily: Symbol; msolist: Ignore;">· Dementia
 * Symptoms:** Huntington’s Chorea is a progressive degenerative brain disorder. Since the disease presents itself and progresses over time, the symptoms vary. <span style="font-size: 22pt; line-height: 115%; font-family: Calibri; text-align: center; msobidifontsize: 11.0pt;">
 * Early Symptoms:**
 * Later Symptoms: **

Normal Brain Brain affected by Huntington’s Chorea


 * Diagnosis:** In order to diagnose Huntington’s a doctor may do a few physical tests to see if you are presenting any of the symptoms associated with the disorder. They also may ask for your family history to see if they can trace the disorder. They can also do a blood test to find out for sure if you carry the defective gene.


 * Prognosis**: Unfortunately, Huntington’s ultimately leads to death, usually from one of the complication such as trouble swallowing, an infection, or a fall. Also since depression is associated with the disorder, there is some risk of suicide.


 * Treatment:** There is currently no cure for Huntington’s Chorea, but there are medications that can help to stabilize moods and control spasms. Counseling is also recommended for the patient and the family. Dieticians are also recommended to help stop weight loss.


 * Statistics of people born with disorder (ethnic groups if possible): **Although everyone is susceptible to Huntington’s it has the greatest population in small countries in Western Europe, with 3 to 7 people in 100,000 having the disease. In America, there are 30,000 people with it. Asians are the least at risk for the disease with only 1 per 100,000 people with the disease.


 * Interesting information (famous people in history):** Country singer Woodie Guthrie, famous for the song “This Land is Your Land”, had Huntington’s Chorea.

[|www.stonybrookmedicalcenter.org] [] [] [] [|www.cfnet.net]

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