Diseases/Disorders Flashcards
(37 cards)
hearing loss
collagen IV defect
kidney scarring “basketweave”
Alport syndrome
mutation in the FBN1 gene (fibrillin-1)
long limbs
flat feet
poor eyesight (lens dislocation)
enlarged aorta
weakening of the connective tissue
Marfan syndrome
hyperflexible skin and joints
fragile tissue (cigarette paper)
collagen defect
Ehlers-Danlos syndrome
resistance to cholera
sweat chloride test
loss of vas deferens
thick mucus
respiratory issues
clubbed fingers
scarring and cyst formation on the pancreas
Cystic fibrosis
lysosomal deficiency
lipid buildup
hexosaminidase A deficiency (HEXA)
cherry red macula (retina)
common in Ashkenazi Jews
Tay-Sachs disease
CGG repeats
intellectual disability
large ears/jaw/testes
Fragile X syndrome
CAG repeat
early-onset Westphal variant
development of chorea (shaky movements)
damage to basal ganglia
autosomal dominant
trated with tetrabenazine
Huntington’s disease
three copies of chromosome 21 (trisomy)
Brushfield spots (iris)
flattened nose
short, thick neck
intellectual disability
Down syndrome
females with only 1 X chromosome (45,X)
short stature
webbed neck
infertility
Turner syndrome
males with an extra X chromosome (47, XXY)
low testosterone and weak muscles
gynecomastia
long limbs
Klinefelter syndrome
elfin face
strong verbal skills (outgoing personality)
cardiovascular disease
Williams syndrome
dopamine loss
resting tremor
Lewy bodies (substantia nigra)
shuffling gait
cogwhelling
pill-rolling
treated with Levodopa (L-dopa)
Parkinson’s disease
mutations on the APP gene
amyloid plaques
tau tangles
ApoE4 gene
Josef F. and Auguste D.
memory loss
Alzheimer’s disease
targets motor neurons
causes muscles to atrophy
treated with Riluzole
Stephen Hawking
Lou Gehrig (baseball, Yankees)
ice bucket challenge
ALS
destruction of myelin sheath
loss of function in glial cells
Multiple sclerosis
motor and vocal tics
the most entertaining disease tbh
Tourette syndrome
recurrent seizures
“grand mal” or “petit mal”
Epilepsy
deforms red blood cells
resistance to malaria
common in black Americans
Sickle cell disease
FDR
similar to polio
Guillain-Barré syndrome
lowered hemoglobin production
α or β chain deficiency
microcytic anemia
Greek for “sea blood”
Thalassemia
factor VIII/IX deficiency
bleeding tendency
X-linked
Alexei Romanov (Rasputin advice)
Hemophilia
inhibits blod clotting
most common bleeding disorder
Von Willebrand disease
bulls-eye” rash
spread by ticks
caused by the Borrelia
can lead to arthritis
Lyme disease
CD4+ T-cell loss (helper T cells)
“bushmeat” hypothesis
by AZT and Truvada
Kaposi’s sarcoma
inactivates the CCR5 receptor
gp120 and gp41
HIV
