https://padlet.com/danielssister/dsljei74aqz0 Made with wonder en-us 2017-01-08 22:22:50 UTC 2025-12-05 00:27:44 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Clouds.png danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/145883919 Huntington's disease is an inherited disorder that causes brain damage and muscle disorders.  This is an autosomal dominant disease and generally inherited from your parents (occasionally there is a mutation in the normal gene causing the disease).  It is most common in people of European background and is extremely rare in African Americans.  In this disease, the Huntingtin gene codes for an abnormal protein that gradually damages brain cells.  Signs of Huntingon's disease usually begin between the ages of 30 and 50 (although in a few cases clinical signs can begin in people as young as 20).  Some of the symptoms for Huntington's disease are slurred speech, depression, personality changes and aggressive behaviors.  Huntington's disease is fatal so if you are diagnosed with Huntington's that means you will live on average another 10 years after the initial diagnosis.   Diagnosis is by genetic testing which can be done at any time (whether you have symptoms of the disease or not).  There is no treatment currently and research is ongoing to find medicines that might help.]]> 2017-01-08 22:23:13 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/145883919 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146016842 Sickle Cell disease is an inherited disorder that causes tissue and organ damage. Sickle cell disease causes an abnormality in the oxygen-carrying protein "hemoglobin" found in red blood cells.  This leads to a rigid, sickle-like shape under certain circumstances.  The disease is usually due to point mutation. Some of the symptoms for sickle cell are stroke, painfull swelling of hands and feet, stunted growth and dark urine. Sickle dell anemia is recessive meaning both alleles must be present in order to have this disease. ]]> 2017-01-09 15:44:50 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146016842 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146025845 Phenylketonuria or PKU is an inherited disorder that causes people to not have the enzyme that breaks down the amino acid phenylalanine.  Untreated PKU can lead to mental disability, seizures and behavioral problems.  PKU is inherited from one's parents as an autosomal recessive disease.  Ultimately affected people have low levels of an enzyme called phenylalanine hydroxylase that breaks down the amino acid.  Affected individuals are put on a special diet that contains low phenylalanine.  For example - affected babies have to be on special formulas and can't be fed milk.  If you give milk to people with PKU it can cause nerve damage. Some of the symptoms for PKU are seizures, pale hair/skin and developmental delays. People with PKU that maintain a special diet can live a normal lifespan.]]> 2017-01-09 16:09:39 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146025845 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146028163 Hemophilia is an inherited disorder that causes the blood not to clot. This results in people bleeding longer than normal after an accident. There are two types of hemophilia.  In type A people lack clotting factor VII and in type B they lack factor IX.  Some of the symptoms for hemophilia are nosebleeds, spontaneous bleeding and blood in the urine. Hemophilia is inherited as a sex-linked recessive disorder.  ]]> 2017-01-09 16:15:47 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146028163 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146030014 Tay Sachs is a rare inherited disorder that causes the inability to break down lipids. This causes excessive amounts of fats in the brain and nerve cells leading to progressive deterioration of mental and physical abilities.  Clinical signs begin around 6-7 months of age and usually result in death by the age of 4.  You will notice this is most commonly in infants.  Some of the symptoms for Tay Sachs include deafness, decreased eye contact and irritability. Tay Sachs is autosomal recessive meaning both alleles must be present in order to have this disease. This disease is most common amongst certain ethnic groups including Jewish people and French Canadians.]]> 2017-01-09 16:20:38 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146030014 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146033002 Cystic Fibrosis is an autosomal recessive disorder that causes an excessive amount of mucus production. People with CF have a mutation in a protein that is involved in production of sweat, mucus and digestive fluids.  In people that have CF, these fluids become very thick instead of being thin.  Thick mucus can cause lung damage and frequent coughing. Some symptoms of Cystic Fibrosis are wheezing, bonchitis and chronic coughing. Screening for this disease is often done at birth and can be done by genetic testing.  There is no specific treatment for CF although things can be done to help manage clinical signs.  The average lifespan of a Cystic Fibrosis patient is about 35 years of age.  ]]> 2017-01-09 16:28:27 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146033002 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146035223 Color Blindness is an inherited disorder that causes the inability to see certain colors. Problems are generally minor but it can affect day to day activity. Some symptoms of color blindness are problems seeing colors, issues seeing brightness of colors and inability to differentiate between similar shades of colors. Color blindness is recessive meaning both alleles must be present in order to have this disease. The disorder is also sex linked meaning it is carried on the 23rd chromosome (or on the sex chromosomes).  ]]> 2017-01-09 16:34:13 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146035223 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146116226 2017-01-09 20:31:17 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146116226 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146117653 2017-01-09 20:36:41 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146117653 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146119570 2017-01-09 20:44:49 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146119570 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146120453 2017-01-09 20:48:22 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146120453 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146121208 2017-01-09 20:51:37 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146121208 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146123455 2017-01-09 21:00:40 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146123455 danielssister https://padlet.com/danielssister/dsljei74aqz0/wish/146125280 2017-01-09 21:10:07 UTC https://padlet.com/danielssister/dsljei74aqz0/wish/146125280