Neuromuscular I - neurophysiology, plexopathy and neuropathy Flashcards
orange tonsils and neuropathy
tangier’s disease
albuminocytologic dissociation
GBS
acute motor & sensory axonal neuropathy
GM1, GM1b, GD1a
finger ABDuction
dorsal interossei (DAB: dorsal, abduct)
finger ADDuction
palmar interossei (PAD: palmar, adduct)
benedictine sign
median neuropathy. on attempt to make a fist, absent flexion of first digit, partial flexion of fourth and fifth digits
claw hand
ulnary neuropathy. on attempt to make a fist, the fourth and fifth digits hyperextend at the metacarpophalangeal joint and partially flex at the interphalangeal joint
warternberg’s sign
ulnar neuropathy. fifth digit ABDuction at rest
froment’s sign
ulnar neuropathy. during attempted forceful ADDuction of the thumb, as w/ attempt to hold a piece of paper b/w the thumb and index finger, thumb flexion occurs
intrinsic hand weakness in frequent bicycle rider
unary neuropathy due to compression in guyots cancel
wrist drop with strong forearm extension, reduced sensation over lateral arm
radial neuropathy at the spinal groove
OK sign
anterior interosseous neuropathy. on attempt to make “oaky sign” the distal phalanges are unable to flex and instead the fingertip pulps touch. weakness of flexor digitorum profundus to the second and third digits, flexor pollicis longs and pronator quadrates, no sensory loss
miller fisher syndrome
GQ1b
acute sensory neuronopathy
GD1b
multifocal motor neuropathy with conduction block
GM1
sensory ataxia, asymmetric sensory loss, areflexia, normal strength, reduced SNAPs with normal CMAPs
sensory neuronopathy
paraneoplatic neuropathy and/or neuronopathy a/w small cell lung cancer
anti-hu
inflammatory demyelinating polyneuropathy for > 8 week
CIDP = chronic inflammatory demyelinating polyneuropathy
inflammatory demyelinating polyneuropathy for < 4 weeks
AIDP = acute inflammatory demyelinating polyneuropathy
wrist drop w/ weak forearm extensors in an alcoholic
Saturday night palsy; Proximal radial nerve injury, prior to the spiral groove
bilateral carpal tunnel, family hx of carpal tunnel tunnel, mild sensory polyneuropathy (dx, protein)
familial amyloid polyneuropathy type 2, transthyretin
corneal dystrophy, multiple cranial neuropathies, peripheral sensorimotor neuropathy
familial amyloid polyneuropathy type 4
asymmetric demyelinating neuropathy affecting several motor nerves
multifocal motor neuropathy
asymmetric demyelinating neuropathy affecting several motor and sensory nerves
multifocal acquired demyelinating sensory and motor neuropathy
hammertoes, high-arched feet, yes cavus
Charcot-marie-tooth = CMT
most common type of CMT, mode of inheritance, type (axonal vs demyelinating)
CMT1, autosomal dominant demyelinating (note: second most common type is X-linked CMT)
duplicating in peripheral myelin protein 22 (PMP22) gene on chromosome 17
CMT1A (note CMT1 is also known as HSMN1)
deletion in peripheral myelin protein 22 (PMP22) gene on chromosome 17
hereditary neuropathy with liability to pressure palsies
gene mutated in X-linked CMT
connexion 32 gene
demyelinating neuropathy w/ monoclonal gammopathy
anti-MAG
sensory loss, acral mutation, autonomic symptoms
hereditary sensory and autonomic neuropathy
episodes of painful burning in the hands and feet w/ head exposure and exercise
primary erythromelalgia (can also occur in fabry’s disease)
acute motor axonal neuropathy
GM1, GM1b, GD1a, GalNac-GD1a
painful sensory polyneuropathy, autonomic dysfunction, cardiac and renal involvement, family hx of the same
familial amyloid polyneuropathy type 1, transthyretin
Consider Fabry’s disease (if inheritance is X-linked in a pt w/ these manifestations)
porphyria in which photosensitivity DOES NOT occur
AIP = acute intermittent porphyria
angiokeratoma
purplish lesson seen on trunk, scrotum, in Fabry’s disease
enzyme deficiency in Fabry’s disease
mode of inheritance
alpha-galactosidase A
X-linked
retinitis pigmentosa, neuropathy
-refsum’s disease
-myoneurogastrointestinal encephalopathy
-neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome
-abetalipoprotenemia
retinitis pigmentosa, neuropathy, ataxia, very low density lipoprotein, acanthocytes on peripheral smear
abetalipoprotenemia, Bassen-kornzweig syndrome, autosomal recessive
