Neuromuscular buzz phrases - ch 9,10,11 Flashcards
orange tonsils and neuropathy
tangier’s disease
albuminocytologic dissociation
guillan barre syndrome
acute motor and sensor 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 second digit, complete flexion of fourth and fifth digits.
claw hand
ulnar neuropathy. on attempt to make a fist the fourth and fifth digits hyperextend at the metacarpophalangeal joint and partially flex at the interphalangeal joint.
wartenberg’s sign
ulnar neuropathy. fifth digit abduction at rest.
froment’s sign
ulnar neuropathy. during attempted forceful adduction of the thumb, as with attempt to hold a piece of paper between the thumb and index finger, thumb flexion occurs
intrinsic hand weakness in frequent bicycle rider
ulnar neuropathy due to compression in Guyon’s canal
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 an okay 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 longus, and pronator quadratus, 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 SMAPs
sensory neuronopathy
paraneoplastic neuropathy and/or neuronopathy associated with small cell lung cancer
Anti-Hu
inflammatory demyelinating polyneuropathy for more than 8 weeks
chronic inflammatory demyelinating polyneuropathy
inflammatory demyelinating polyneuropathy for less than 4 weeks
acute inflammatory demyelinating polyneuropathy
wrist drop with weak forearm extensors in an alcoholic
saturday night palsy; proximal radial nerve injury, prior to spiral groove
bilateral carpal tunnel, family history of carpal tunnel, mild sensory polyneuropathy (diagnosis, protein)
familial amyloid polyneuropathy type 2, transthyretin
corneal dystrophy, multiple nranial 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 feed, pes cavus
Charcot Marie Tooth (CMT)
most common type of SMT, mode of inheritance, type (axonal vs. demyelinating)
CMT1, autosomal dominant demyelinating )note: second most common type is X-linked CMT)
duplication 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
connexin 32 gene
demyelinating neuropathy with monoclonal gammopathy
anti-mag
sensory loss, acral mutilation, autonomic symptoms
hereditary sensory and autonomic neuropathy
episodes of painful burning in the hands and feet with head exposure and exercise
primary erythromelalgia (can also occur in Fabry’s dz)
acute motor axonal neuropathy
GM1, GM1b, GD1a, GalNac-GD1a
painful sensory polyneuropathy, autonomic dysfunction, cardiac and renal involvement, family history of the same
familial amyloid polyneuropathy type 1, transthyretin. consider Fabry’s disease (if inheritance is x-linked in a patient with these manifestations)
porphyria in which photosensitivity does not occur
acute intermittent porphyria
angiokeratoma
purplish lesion seen on trunk, scrotum in Fabry’s disease
enzyme deficiency in Fabry’s disease
alpha - galactosidase A
mode of inheritance of Fabry’s disease
X-linked
retinitis pigmentosa, neuropathy
refsum’s disease
myoneurogastrointenstinal encephalopathy, neurogenic muscle weakness, ataxia and retinitis pigmentosa syndrome, abetalipoproteinemia
retinitis pigmentosa, neuropathy, ataxia, very low density lipoprotein, acanthocytes on peripheral smear
abetalipoproteinemia, Bassen-Kornzweig s/o, autosomal recessive.
acute onset of dysautonomia in a smoker with a lung mass
paraneoplastic autonomic gangionopathy antibody against ganglionic nicotinic acetylcholine receptor
horner’s syndrome with intact facial sweating
lesion distal to carotid bifurcation (as sweat fibers travel along external carotid)
throat, tongue, ear pain associated with syncope
glossopharangeal neuralgia
tilt table test showing increase in heart rate of at least 30 bpm from baseline or to more than 120 bpm within 10 minutes of head up tilt without significant changes in blood pressure, but with symptoms of orthostasis
postural orthostatic tachycardia syndrome, the most common form of dysautonomia
emery-dreifuss (gene, inheritance)
LMNA, autosomal dominant. Emerin, X-linked
central core myopathy (gene, pathologic finding, clinical association)
RYR1
central pale cores in NADH stains from absence of mitochondria. associated with malignant hyperthermia
tarul disease (enzyme)
phosphofructokinase deficiency
cause of hirschsprung’s disease
maldevelopment with focal absence of the myenteric plexus, sometimes due to RET proto-oncogene mutation
becker’s muscular dystrophy (protein, inheritance)
abnormal or reduced dystrophin, x-linked recessive
Cori disease (enzyme)
debranching enzyme deficiency
syncope with hypotension and bradycardia after putting on a tight neck tie
carotid sinus hypersensitivity
anti-muscle specific tyrosine kinase antibodies
fifty percent of seronegative myasthenics, predominantly involving swallowing, neck flexors
mcardle’s disease (enzyme)
myophosphorylase deficiency
dermatomyositis (pathologic findings)
perifascicular atrophy
myotonic dystrophy DM1 (gene affected)
GCG repeat, PABP2 gene
inclusion body myositis (pathologic findings)
rimmed vacuoles
critical illness myopathy (pathologic finding)
myosin loss
andersen’s disease (enzyme)
branching enzyme deficiency
motor neuron disease with both upper and lower motor neuron involvement
amyotrophic lateral sclerosis
survival motor neuron 1 gene
spinal muscular atrophy
motor neuron disease with only lower motor neuron involvement
progressive muscular atrophy, spinal muscular atrophy, benign focal amyotrophy
subacute combined degeneration of the spinal cord
vitamin B12 deficiency
postgastric bypass neurologic syndrome
copper deficiency
anterior two thirds of the spinal cord
anterior spinal artery
posterior third of the spinal cord
posterior spinal arteries
Devic’s disease, aquaporin-4
neuromyelitis optica
nitrous oxide toxicity, associated with B12 depletion
anesthesia paresthetica
HIV related myelopathy
vacuolar myelopathy
large radicular artery supplying lower thoracic and upper lumbar region
adamkiewicz
ipsilateral loss of motor function and sensation to vibration and proprioception below the level of the lesion, with contralateral loss of sensation to pain and temperature
brown-sequard syndrome
adrenomyeloneuropathy, x-linked
ABCD1 gene on chromosome Xq28
chronic steroid use
epidural lipomatosis
