Huntington's+Disease-+Sharlene+Paolino

Huntington’s Disease

**Description : ** It’s a brain disorder that affects a person’s ability to talk, think or move. The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, and cognitive ability. HD is caused by a mutation gene on chromosome 4. People that are infected have the abnormal CAG count, approximately 40 or more. This disrupts the function of the gene’s protein product. Somehow the protein becomes toxic, resulting in cell death. Patients lose 20% of their brain cells before death.

**Inheritance: ** It is inherited in an autosomal dominant pattern. Meaning that everyone inherits the faulty gene and will eventually get the disease, parent with an HD has a 50% of passing the disease in their kids.

**Punnet Square: **

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**Symptoms: ** They usually get symptoms around the age of 30 and 50. Symptoms are poor memory, depression, or mood swings, lack of coordination, twitching or uncontrolled movements, difficulty walking, speaking, and or swallowing. Late stages of the disease will need help doing even simple task such as getting dressed.

**Diagnosis: ** During a pregnancy there’s two ways that they’ll be able to know if a person has Huntington’s disease by doing two tests: taking a sample of fluid from around the fetus, or by taking a sample of fetal cells from the placenta. After a child is born, doctors can identify disease by doing a series of neurological and psychological tests. A genetic test can also determine if the person has inherited the HD gene mutation.

**Treatment: ** There is no cure; however drugs may prevent some of the associated movement disorders. Anti- depressants and counseling may be required due to severe mental depression that often accompanies the disorder; 25% of those affected are thought to attempt suicide. Physical or speech therapy helps HD patients lead more normal lives.

**Facts: **

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**<span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Support Group: ** **//<span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Huntington’s disease Society of America //**
 * <span style="font-family: 'Times New Roman',serif; font-size: 16px; line-height: 24px;">The disease was named after Dr. George Huntington, who first described it in 1872.
 * <span style="font-family: 'Times New Roman','serif'; font-size: 16px;">In the United States, about 1 in every 30,000 people has Huntington’s disease.

**<span style="font-family: 'Times New Roman','serif'; font-size: 16px;">Sources: ** <span style="font-family: 'Times New Roman','serif'; font-size: 16px; line-height: normal; text-indent: -0.25in;">- The Encyclopedia of Genetic Disorders and Birth Defects: third edition James Wyn Brandt. Pg 205-206 <span style="font-family: 'Times New Roman','serif'; font-size: 16px; line-height: normal; text-indent: -0.25in;">- []