![]() ![]() The effects depend in part on the specific gene variants that they have. MSUD can look different from person to person. In the United States, about 1 in every 30,000 people has Huntington disease. George Huntington, who first described it in 1872. Interesting facts about Huntington Disease Physical or speech therapy helps HD patients lead more normal lives. Medications ease feelings of depression and anxiety others control involuntary movements. Treatments do not slow the progression of the disease, but they can help make the patient more comfortable. In the late stages of the disease, a person will need help doing even simple tasks, like getting dressed. Symptoms include poor memory, depression and/or mood swings, lack of coordination, twitching or other uncontrolled movements, and difficulty walking, speaking, and/or swallowing. Most people who have the disease start to see symptoms between the ages of 30 and 50 (but symptoms can appear earlier or later in life). Huntington disease affects the part of the brain that controls thinking, emotion, and movement. An affected child must inherit two non-working copies of the gene, one from each parent.įeatures and symptoms of Huntington Disease? Without these enzymes, the intestines cannot break down food to extract all of the nutrients that are needed for a person to grow and thrive.ĬF follows an autosomal recessive inheritance pattern. Thick mucus also blocks ducts in the pancreas, keeping digestive enzymes from getting into the intestines. Mucus clogs the airways, and increases the risk of infection. The most serious effects are the lung cells. Without CFTR protein, salt becomes unbalanced, and the mucus becomes thick and sticky. This process is key for maintaining a thin layer of mucus inside the lungs, digestive tract, and other organs. The job of the CFTR protein is to help maintain salt balance by moving chloride ions (from sodium chloride, or salt) out of cells. People with CF have two non-working copies of the gene, and so they make no working CFTR protein. The affected gene in CF is CFTR (cystic fibrosis transmembrane conductance regulator), on chromosome 7. An affected child must inherit two non-working copies of the gene, one from each parent. They suffer damage to both the lungs and the liver.Īlpha-1 follows an autosomal recessive inheritance pattern. Others make a version of the protein that gets stuck in the liver. Some people who have Alpha-1 make no alpha-1 antitrypsin protein at all, and they suffer only lung damage. Without alpha-1 antitrypsin protein, neutrophil elastase attacks and damages the lungs. It helps to clear away damaged tissue in the lungs. Neutrophil elastase is made naturally by white blood cells (specifically neutrophils) in response to an infection or irritants. It protects the lungs from attack by an enzyme called neutrophil elastase. People with the disorder have two non-working copies of the gene, so they make no working alpha-1 antitrypsin protein.Īlpha-1 antitrypsin protein is normally made in the liver and released into the blood. This gene codes for a protein called alpha-1 antitrypsin. The affected gene in Alpha-1 is SERPINA1, on chromosome 14. ![]()
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