Medical Conditions - Introduction Flashcards
Achondroplasia
dwarfism
cri du chat
chromosome 5 is missing, infants have high pitched cry, less intellectual disability
galactosemia
body cannot process the sugar galactose
phenylketonuria
increases phenylaanine in body. proteins can act like poisions
hemophilia
blood doesnt clot normally
muscular dystrophies
group of dieases that cause progressive weaknesses and loss of muscle mass
porphyria
group of disorders that result from a buildup of natural chemicals that lead to heme production
tay-sachs diease
autosome disorder that progressively destroys nerve cells in brain and spinal cord
Alzheimer’s
memory loss, dementia, neurological disorder
celiac diease
autoimmune disorder where injestion of gluten leads to damage in the small intestine
fragile X syndrome
causes developmental problems like learning disabilities
huntingtons disease
progressive breakdown of nerve cells in brain affects muscle coordination
lesch- nyhan syndrome
occurs in males and affects how body builds up and breaks down purines, causes involunatary muscle movements
nuerofibromatosis
is a genetic disorder that disturbs cell growth in your nervous system, causing tumors to form on nerve tissu
prader-willi syndrome
congenital (present from birth) disease. It affects many parts of the body. People with this condition are obese, have reduced muscle tone and mental ability, and have sex glands that produce little or no hormones.
thalaseemias
is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen.
angelman syndrome
s a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures
G-6-PD
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection.
hypercholestrolemia
is a condition characterized by very high levels of cholesterol in the blood
marfan syndrome
is a disorder of connective tissue, the tissue that strengthens the body’s structures.
Parkinson’s disease
is a disorder of the brain that leads to shaking (tremors) and difficulty with walking, movement, and coordination
progeria
rare genetic condition that produces rapid aging in children
xeroderma pigmentosum
vampire syndrome. is a rare condition passed down through families in which the skin and tissue covering the eye are extremely sensitive to ultraviolet light.
cystic fibrosis
disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body
