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AutismCystic FibrosisDown SyndromeDuchenne Muscular DystrophyEpilepsyHuntington’s DiseaseMarfan SyndromeObesityPolycystic Kidney DiseaseRetinoblastomaSourcesSources (cont.)Sources (cont.)Sources (cont.)Sources (cont.)+AutismResearch shows that Autism has the possibility of being linked to chromosomes 7, 12, 15, 17, 20, 22, and X.Can be Autosomal Dominant or Autosomal Recessive in some families of AutismAutism is a progressive disorder which materializes in the first 3 years of life, and disturbs typical brain development in regards to social and communication abilities. Symptoms: deficits in social behavior, language abnormalities, cognitive delays, restrictive interests, and repetitive thoughts or actions.Recent studies show that air pollution may increase Autism risk.There is no known cure. Commonly used treatments: Pivotal Response Training, floor time, Early Start Denver Model, RelationshipDevelopment Intervention, and Discrete Trail Training.+Cystic FibrosisCHROMOSOME 7Autosomal Recessive DisorderCystic fibrosis is a hereditary and enduring disease affecting one’s lungs and digestive system.Cystic fibrosis results in thick mucus which blocks the lungs, causing breathing problems. mucus to be thick and sticky. Cystic fibrosis can lead to repeated lung infections and lung damage.Symptoms: salty-tasting skin,persistent coughing, frequent lung infections, wheezing or shortness of breath, poor growth and weight gain, anddifficulty in bowel movements.This is most common in Caucasians of Northern European descent. Also is common in Latinos and American Indians, especially the Pueblo and Zuni.No known cure. Treatments: antibiotics for airway infections, chest physical therapy, nutritional therapy, exercise, anti-inflammatory medications, oxygen therapy, and lung transplantation.+Down SyndromeCHROMOSOME 21Autosomal DisorderNeither Dominant or RecessiveDown syndrome occurs when an individual possesses an extra copy of chromosome 21.Trisomy 21 means that an individual has three copies of chromosome 21.Those individuals born with down syndrome commonly have other health problems as well, such as heart disease, dementia, hearing problems and problems with the intestines, eyes, thyroid and skeleton.Symptoms: short stature, weak muscles, short wide neck, short, stocky arms and legs, slanted eyes, pushed in nasal bridge, small ears, irregularly shaped mouth and tongue, crooked teeth, mental disability, heart defects, depression, behavior problems, respiratory infections, eye conditions, and hearing problems.The probability of giving birth to a child with Down’s Syndrome increases as a woman grows older.There is no known cure. Treatments: regular checkups and screening,medications, surgery, and counseling.+Duchenne Muscular DystrophyCHROMOSOME XX-linked Recessive Disorder (sex-linked)Muscular dystrophy induces significant muscle weakness. Over time, muscles break down and are replaced with deposits of fat.Duchenne muscular dystrophy is caused by a defective gene for dystrophin . Although those with a family history of the disease are slightly more at risk, it often occurs in people without a known family history of the disease.Drag picture to placeholder or click icon to addSymptoms: fatigue, learning difficulties, mental retardation, muscle weakness, difficulty with motor skills, bad coordination, trouble standing up or climbing stairs, and difficulty walking (progressively gets worse)People with a family history of Duchenne muscular dystrophy are most at risk. Males are more likely to develop symptoms than women.There is no known cure. Treatments: steroid drugs, albuteral, amino acids, carnitine, coenzyme Q10, creatine, fish oil, green tea extracts, and Vitamin E.+EpilepsyCHROMOSOME 2Recent Research also shows that there is a possible link between epilepsy and chromosome 20.Autosomal, can be dominant or recessive depending on the type of epilepsyEpilepsy disturbs a normal neural activity (in the brain) which leads to seizures, strange sensations, inappropriate behaviors, and uncontrollable emotions.Symptoms: different types of generalized seizures and focal seizures. There is an increased risk of developing epilepsy after a traumatic brain injury.Treatments: temporal lobectomy, corpus callosotomy, extra temporal resection, brivaracetam, lacosamide, vigabatrin, and vagus nerve stimulation.+Huntington’s DiseaseCHROMOSOME 4Autosomal Dominant DisorderAlso referred to as Huntington’s ChoreaHuntington's disease is a hereditary, degenerative sensory disease that often results in dementia.No obvious phenotypic effects until the ages of 35-40.Every child of a parent with huntington’s disease has a 50% chance of inheriting that gene. However, if that child does not inherit the gene for the disease, he or she will not be affected by the disease or be a carrier of the disease. Unfortunately, if a child inherits the gene, he or she will eventually develop the disease.Symptoms: poor memory, depression or mood swings, lack of coordination, twitching or other uncontrolled movements, and difficulty walking, speaking, or swallowing.Men and women are at equal risk of inheriting this disease.There is no known cure. Treatments: physical speech therapy and medications that ease feelings of depression and anxiety or that control involuntary movements.+Marfan SyndromeCHROMOSOME 15Autosomal Dominant DisorderMarfan syndrome is a genetic disorder concerning the body’s connective tissue; which is the material between cells of the body that functions as the structure for the tissues and supplies the tissues with added strength.1 out of 5,000 people worldwide develop marfan syndrome.Mutations in the FBN1 gene cause marfan syndrome.Symptoms: overgrowth of long bones of the arms and legs, scoliosis, indentation or protrusion of the chest wall, dislocation of the lenses of the eyes, nearsightedness, widening and tear of the main artery that carries blood away from the heart, mitral valve prolapse, and aortic and mitral regurgitation.Those who have a family history of this condition are most at risk.There is no known cure. Treatments of the eye, heart, bone, joint, nervous system, and lung are used. Also, surgery and medicine are shown to be effective.+Obesity(linked to) CHROMOSOME 9Autosomal, and can be either Dominant or RecessiveObesity is a health condition that places an individual significantly above his or her ideal healthy weight.Nearly one in


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SC BIOL 101 - doc

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