Exam (elaborations) HOSA Pathophysiology

Angelman syndrome - ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - ANSWER autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - ANSWER protein gluten is not properly broken down cystic fibrosis - ANSWER Hereditary condition that causes the exocrine glands to malfunction. The patient produces very thick mucus that causes severe congestion within the lungs and digestive system. down syndrome - ANSWER Trisomy 21, a condition of retardation and associated physical disorders caused by an extra chromosome in one's genetic makeup duchenne muscular distrophy - ANSWER A human genetic disease caused by a sexlinked recessive allele; characterized by progressive weakening and loss of muscle tissue hemophillia - ANSWER rare bleeding disorder in which your blood doesnt clot normally. klinefelter's syndrome - ANSWER a chromosomal trisomy in which males have an extra X chromosome resulting in an XXy condition; affected individuals typically have reduced fertility neurofibromatosis - ANSWER autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities phenlketonuria - ANSWER A genetic disorder caused by a particular pair of homozygous recessive genes and characterized by the inability to break down phenylalanine, an amino acid found in many high-protein foods. The resulting high blood levels of phenylalanine cause mental retardation polycystic kidney disease - ANSWER kidney disease characterized by enlarged kidneys containing many cysts sickle-cell disease - ANSWER A human genetic disease caused by a recessive allele that results in the substitution of a single amino acid in the hemoglobin protein; characterized by deformed red blood cells that can lead to numerous symptoms. turner syndrome - ANSWER where females only have a single x chromosome instead of two