genetic diseases

There are a few genetic diseases that i'm going to talk about in this post. They are: Familial Hypercholesteremia, cystic fibrosis, phenylketonuria, Huntington's disease, Hemophilia, Duchennes muscular dystrophy, progeria, achondroplasia and tay sachs.

Familial Hypercholesteremia (FH) - Familial Hypercholesteremia is charaterized by high cholesterol levels. More specifically high levels of low - density lipoprotein, which is the bad cholestrol. Signs of Familial Hypercholesteremia from high cholesterol usually do not cause any symptoms, but sometimes cholesterol deposits may be visable from the outside, like yellowish patches around the eyelids and lumps in tendons around the hands, feet, elbows and knees. This disorder is autosomal dominant. There are 700 different mutations found in FH patients. Those with FH not only have higher cholesterol but they are also at risk for heart attack and stroke. 600,000 people die each year from Familial Hypercholesteremia. This disease occurs in 1 in every 500 people. Homozygous FH is rare and occurs in 1 in every 1,000,000 people. Homozygous FH caused two inherited genes and the affected person doesn't usually live passed their teens. Treating patients with homozygous FH is very difficult because they are resistant to most cholerestol - lowering drugs. Currently FH is being treated with forms of plasmapheresis which removes low - density lipoprotein from the plasma. The treatments however need to be done every 1 to 3 weeks depending on the state of the patient. Heterozygous HF patients are usually treated with cholesterol lowering drugs, with a low fat and cholesterol diet.

cystic fibrosis (CF) - cystic fibrosis is an inherited disease that affects the lungs and digestive system. 30,000 children and Adults have cystic fibrosis in the United States and 70,000 people worldwide. A mutated gene causes mucus to be producted that gets caught in the lungs and leads to infections. Most people with CF can live to their 30s and 40s with the advanced science we have now. symptoms of CF are: salty tasting skin, persistent coughing, frequent lung infections, weezing and shortness of breath, poor growth and weight gain, and diffeculty in bowel movement. 70% of people with CF are diagnosed by age two, 45% of the people with CF are 18 and older. 1,000 new cases of cystic fibrosis are diagnosed each year. For Cystic Fibrosis there are many therapies and medicines that can be used to help clear the mucus out of the airways. There is the airways clearance techniques (ACT) which helps to clear the mucus from the lungs and helps reduce lung infections. They also do postural drainage and percussion which a person with CF stands, sits and lays in a position that will allow the mucus to break up and their chest and back are pounded to release the mucus. Along with this treatments there are drugs that can be taken to help a person with CF. There are oral antibiotics, which are like tablets and capsules. There are liquid antibiotics and inhaled antibiotics, such as an inhaler or nebulizer. Ibuprofen is common because it's an anti - inflammatory, which helps to slow the rate at which the lungs of a person with CF start to decline. The last thing a person can do, which is the same with most diseases, are nutrition and eating right. Children and teens with CF need extra calories to grow. Having good nutrition and maintaining a healthy body weight can help to reduces other diseases and improve the function of the lungs.

phenylketonuria (PKU) - PKU is a genetic disorder where part of the protein phenylalanine (phe) cannot be produced. phe is in almost all foods, and if phe levels get to high it causes brain damage and severe mental retardation. All babies born in U.S hospitals are tested for PKU. This makes it easier to diagnosis and treat babies earlier. There are usually no symptoms, but there can be some symptoms, including: seizures, musty, mouse-like odor, and in children they tend to have lighter hair and skin. This is an autosomal recessive disorder. The treatment for PKU is a low-protein diet, which includes lots of fruits and vegetables and low protein pastas and breads. They stay on this diet for their whole lives. PKU in infants occurs in 1 in every 10,000 to 15,000 infants.

Huntington's Disease - Huntington's disease is a degeneration of brian cells in certain parts of the brain called the Basal Ganglia, which is responsible for movement and emotions. This causes chorea which is involuntary movements of the body. A person with this disease will have involuntary movements, eventually will not be able to eat, drink or swallow by themselves or walk by themselves. This is a progressive desease, which means a persons condition worsens over time, usually around 10 to 25 years. It could take longer or shorter to progress depending on the person. Huntington's disease can develop at different times of a persons life. Most people though do not show signs of having this disaese until thir middle ages, around 35 - 40 years of age. Though symptoms don't usually appear in a person until their middle ages, a person can develop this disease as an infant or up to age 55. Huntington's disease is and autosomal dominant trait that is passed down from parent to child though a mutated gene. A child of an affected parent has a 50% chance of inheriting the gene. 1 in every 10,000 people or 30,000 Americans have Huntington's disease. 150,000 Americans carry the gene for Huntington's Disease. Currently there is on cure for Huntington's disease. A person can find out if they are at risk for Huntington's disease by a series of lab test and family history test. There are treatments available, but they cannot cure or even slow down the process of the disease, it can only make the person more comfortable. In 2008 a drug called tetrabenazine was the first drug approved to treat Huntington's Chorea. Staying active is the best thing for people with Huntington's. Those who stay active and get exercise typically do better then those who do not.

Hemophilia - Hemophilia is a disorder of the blood - clotting system. Those with hemophilia will bleed for a lot long if they have a cut, then those with normal blood clots. Symptoms of hemophilia is spontaneous bleeding which includes: many large or deep bruises, joint pain and swelling cause by internal bleeding, unexplainded bleeding or bruising, blood in urine or stool, noisebleeds with no obvious cause and tightness in joints. More severe symptoms are: sudden pain, swelling and warmth of large joints, bleeding from injuries, painful, lasting headaches, repeated vomiting, extreme fatigue, neck pain and double vision. There are three types of hemophilia, hemophilia A, hemophilia B, and hemophilia C. Hemophilia A is the most common. Each type of hemophilia is caused by a lack of enough clotting factor, but the clotting factor for each one is different. There is no cure for hemophilia, but most people with hemophilia can lead a fairly normal life. The treatments though are differant depending on the type and severity of the disease. For mild hemophilia A a hormone called desmopressin is injected into a vain to release more clotting factors to stop the bleeding. Moderate to severe hemophilia A or hemophilia B usually involved infusions of clotting factors taken from donated human blood or from recombinant clotting factors, which are genetically engineered. Repeated infusions may be needed if internal bleeding is serious. For hemophilia C plasma infusions are needed.

Duchennes Muscular Dystrophy (DMD) - DMD is a rapid progression of muscular dystrophy that occurs mostly in boys. This is an x-linked recessive disorder. Those with Duchennes Muscular Dystrophy progressively lose function of muscles and have weakness. DMD affects 1 in 3500 male births worldwide. Symptoms of DMD usually occur before the age of 6. The first noticeable symptoms is dely in motor milestones, such as sitting and standing independently. Muscle weakness will occur in the arms and neck, but most severly in the lower part of the body, especially the legs. Most symptoms appear because 1 and 6 years, then there is a steady decline of muscle strength between 6 and 11 years. By age 10 most people require braces for walking and by age 12 they are usually in a wheelchair. muscular weakness often contribute to breathing problems. Cardiomyopathy, which is enlarged heart occurs in early teen in some and after 18 years for the rest. Most people with DMD don't usually live past they're 30s and the most common cause of death is from breathing problems and cardiomyopathy. The treatment of DMD is usually for the symptoms. Prednisone can be taken improve strength and function of those with DMD and has been known to prolong walking for 2 to 5 years. The side effects though include: weight gain, high blood pressure, behavoir changes and delayed growth. Physical therapy is also used to help mobility.

progeria - Hutchinson - Gilford progeria syndrome (progeria or HGPS) is a rare, genetic condition. This is the most common type of progeria. This disorder has an appearance of accelerated aging in children. Children are born healthy and symptoms of HGPS start to appear between 18 and 24 months. Symptoms include: growth failure, loss of body fat and hair, aged - looking skin, stiffness of joins, scalp vains, high-pitched voice, hip dislocation, atherosclerosis (heart disease), cardiovascular disease, and stroke. Children with HGPS die of atherosclerosis at and average of 13 years old. This disease is very rare, there have been only 130 cases of progeria have been documented. progeria isn't passed down in families, it is due to a mutation of the genes. Neither the parents are carriers, the mutation is new. There is no cure of progeria, some children undergo coronary artery bypass to slow the progression of cardiovascular disease. Low dose aspirin taken daily can help to prevent heart attacks and stroke. physical and occupational therapy may help with stiff joints and hip problems to keep the child active. high calorie dietary supplament will give the child extra calories to prevent weight loss.

achondroplasia - achondroplasia is a genetic disorder that results in abnormally short, disporportional limbs. This is also commonly known as dwarfism. The average height of an adult male is 4 feet 4 inches and for an adult female is 4 feet 1 inch. The problem with achondroplasia is the converting of cartilage to bone. The worldwide average for achondroplasia is 1 in every 25,000 births. Achondroplasia is autosomal dominant. Only about 1/8 of cases of achondroplasia are inherited from a parent with achondroplasia, usually the disease is inherited from a new mutation in the DNA. The chance of an affected person passing on the disease to their offspring is 50% per pregnacy. The chance of two affected people passing on the disease is 25% avaraged sized, 50% achondroplasia and 25% chance that the child will have two achondroplasia genes. The danger with a child inheriting two achondroplasia genes is a skeletal disorder which results in early death. achondroplasia cannot be cured and many other things such as hearing loss and dental problems also arise with achondroplasia. Those with the disorder need to be monitored regularly so these things don't happen. Orthopedic proceedure may be done to length bones.

tay sachs disease - Tay sachs is a rare, genetically inherited disorder, where the parent passes it on to their child. This disorder is a deterioration of the brain and nervous system. As it progresses the person loses body function, blindness, deafness, paralysis, and death. Symptoms usually start around 6 months old and the child dies within a few years (on average 4 or 5 years old), but late -onset tay sachs can develop in teens and adults. This disease prevents the body from producing enough hexosaminidase A, which is an enzyme responsible for the break down of fatty substance called GM2 gangliosides. Since the enzyme can't break down the substance it gets stored in the brain. Though this disorder is very rare in the general public this disorder affects mostly those of eastern and central european jewish communities, people from french - canadian communities of Quebec and people from cajun communities of Lousiana. In these communities this disorder can affect up to 1 in 5,000 people. The symptoms of tay-sachs are: seizures, noticeable behavoir changes, increased startle reaction, decreased eye contact, listlessness, slow body growth with increasing head size, delayed mental and social skills. Currently there are no cures for tay sachs, only minor things to make the person more comfortable. Scientist though are working on finding a cure for this disorder.

As you can see from these 9 disorders that, DNA can not only be complicated but the simpliest mutation in the genes can completely change the function of your body.