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Chromosomal Disorders and Genetic disorders - and muscle/motor stuff
Terms in this set (77)
chromosomes in Klinefelter?
47, XXY (think of male with an extra X) (presence of Barr body)
what leads to decreased Inhibin in Klinefelter?
dysgenesis of seminiferous tubules --> decreased inhibin B, increased FSH
estrogen and FSH/LH in turner's?
decreased estrogen (streak ovaries) and increased fSH/LH
high pitched crying/mewing, epicanthal folds, cardiac abnormalities
microdeletion of short arm of chr 5 (5p)
chromosome abnormality in williams syndrome? characteristics?
chr 7; long arm microdeletion
elfin faces, intelle disability, ypercalcemia, extreme friendliness with strangers, cv probs, interest in music
DiGeorge - thymic, parathyroid, cardiac
velocardiofacial syndrome - palate, facial, cardiac defects
trinucleotide repeat in Huntington?
audate has decreased
hromosome *C*uatro (4)
trinucleotide repeat in myotonic dystrophy? characteristics?
oupee (early balding in men),
oadal atrophy (increased FSH)
my tone, my toupee, my testes, my ticker
AD DPMK gene - abnormal expressio nof myotonin protein kinase
chr assoc with ADPKD?
trinucleotide repeat in Fragile X? characteristics? inheritance?
FMR gene, hypermethylation
trinucleotide repeat in Friedreich Ataxia? characteristics?
frataxin - mito protein that deals with iron detoxicification and storage
staggering gait, frequent falls, dysarthria, cardiomyopathy, nystagmus, pes cavus, hammer toes, kyphoscoliosis
Inheritance of FAP?
Inheritance of Gardner syndrome?
Inheritance of achondroplasia?
AD (assoc with paternal age)
Inheritance of familial hypercholesterolemia?
Inheritance of hereditary hemorrhagic telangiectasia?
abnormal blood vessel formation in skin - epistaxis, telangeictasias, chronic GI bleed, AVM
Inheritance of hereditary spherocytosis?
Inheritance of Huntington?
Inheritance of Marfan?
Inheritance of MEN's?
Inheritance of NF1, NF2?
NF1: cafe au lait, neural tumors, lisch nodules
Mnemonic for X-linked disorders?
ive *H*er *B*oys
blivious *F*emales *W*ill *G*ive *H*er *B*oys
Inheritance for Tuberous sclerosis?
Inheritance for VHL?
hemangioblastoma of retina, cerebellum, medulla
Inheritance for albinism/
Inheritance for CF?
CFTR gene ATP gated Cl-channel; chr 7 - deletion of Phe 508
Inheritance for glycogen storage disoders?
Inheritance for Hemochromatosis?
Inheritance for Kartagener?
Inheritance for PKU?
Inheritance for sickle cell?
Inheritance for thal?
Inheritance for Wilson disease?
long thoracic nerve innervates
serratus anterior (C5-C7) (A)
what does the suprascapular nerve innervates?
infra and supraspinatus
lateral pectoral nerve?
teres major - medial rotation, adduction
subscapularis (internal rotation)
injury to C5-C6 nerve root?
Erb duchenne palsy (waiter's tip) (infants - shoulder dystocia)
Injury to lower nerve root?
Klumpke palsy (C8-T1 nerve root)
caused by grabbing onto tree branch, or pulling on baby's arm during delivery
what kind of palsy from damage to radial nerve?
"Saturday night palsy" = due to crutches or sleeping with arm over chair ; compression of axilla
wrist drop, loss of sensation over posterior arm/forearm and dorsal hand
midshaft fracture of the humerus can injure what nerve?
sensation of ulnar nerve?
what kind of hand movement would you see with ulnar nerve damage
ulnar claw on digit extension
what kind of fracture could injure the median nerve?
injury at teh elbow of the median nerve would cause what kind of deformity?
ape hand -= can't abduct thumb
what kind of deformity is caused by proximal median nerve damage?
Pope's blessing (can't flex first 3 fingers)
which artery runs with the axillary nerve?
posterior circumflex artery
injury to humeral neck or dislocation
what muscles does the femoral nerve innervate?
psoas, pectineus, iliacus, sartorius
(hip flexion), also vastus's (knee extension)
you need femor
to kick a b
sensation of femoral nerve?
anterior thigh, medial leg
what nerve would you injure with an IM injection to the upper medial gluteal region?
superior gluteal nerve - would get hip drop to opposite side
what does the inferior gluteal nerve innervate?
sensation of tibial nerve?
sole of foot; and back of calf (sural nerve)
motor innervation of tibial nerve?
calf muscles - plantar flexion
if injured, can't stand on
sensory of common peroneal nerve
dorsum of foot; lateral aspect of lower leg
motor of common peroneal nerve?
if injured, the foot is drop
(steppage gait) and loss of sensation on dorsum of foot
injured with fracture of fibular head/neck
dermatomes of anterior LE
dermatomes of posterior LE
a herniation at the L3/L4 level affects what nerve? what symptoms?
lower - L4 in this case (weakness in knee extension, decreased patellar reflex)
L5 affected; weak dorsiflexion; difficulty in heel walking
weakness in plantar flexion; difficultin in toe walking; decreased achilles reflex
Type I vs Type 2 muscle fibers?
Type 1: slow twitch, red fibers (increased mito and myoglobin)
Type 2: fast twitch, white fibers (less mito and myoglobin)
M line of the sarcomere?
uge filaments (gets smaller during contraction)
*A* band is
band is *A*lways the same length
Only thin filaments (I is a thin letter)
what do all the bands/lines of the muscle fiber look like on electron microscope?
which nerve would be damaged during an anterior hip dislocation?
which nerve would be damaged during a posterior hip dislocation?
superior/inferior gluteal nerve
which nerve endings transmit info about static pressure, texture and position sense?
Merkel nerve endings = myelinated
which nerve endings transmit info about vibration, pressure
which nerve endings transmit info about light touch, dynamic, position sense?
Meissner corpuscles (large, myelinated)
which nerve endings transmit info about pressure, slippage of objects along surface of skin, joint angle change
which sensory neuron fiber type sense cold, and are fast, myelinated fibers?
Adelta fiber (myelinated)
which sensory neuron fiber type sense burning or dull pain/warmth?
defect in GBS?
autoimmune inflammatory demyelination of PNS (schwann cells)
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