Buzz Flashcards
Motor neuron diseases with only LMN involvement
Progressive muscular atrophy, spinal muscular atrophy, benign focal amyotrophy
Post- gastric bypass neurologic syndrome
Copper deficiency
Paraplegia + loss of pain/temp below lesion. Preserved proprio + vibration
Anterior spinal artery infarct
Watershed region of spinal cord, sensitive to hypotension
T4-T8
Chronic progressive myelopathy associated with T cell lymphoma and leukemia
HLTV-1 (aka tropical spastic paraparesis)
Spinal cord blood supply
1 anterior spinal artery (anterior 2/3)
2 posterior spinal arteries (posterior 1/3)
From vertebral arteries
There are also radicular and segmental arteries from iliac/aorta
Patient comes in febrile, encephalopathic and with progressive flaccid quadriparesis and areflexia
West Nile virus (a Flavivirus)
Ipsilateral loss of motor function and vibration/proprio below lesion, contra lateral loss of pain and temp
Brown Sequard syndrome (hemi section)
ABCD1 mutation on Xq28
Adrenomyeloneuropathy (x linked)
C9orf72 mutation
Most common cause of familial FTD-ALS
Split-hand phenomenon
Feature of ALS
weak/atrophic lateral hand (thenar and first dorsal Inteross)
Sparing of medial hand (hypothenar)
nerves of the lumbar plexus (in order)
Iliohypogastric
Ilioinguinal
Genitofemoral
Lateral femoral cutaneous
Obturator
Femoral
“I (twice) Get Laid On Fridays”
innervates forearm extensors
radial nerve
innervates intrinsic hand muscles
ulnar nerve
PMP22 deletion
HNPP - autosomal dominant, liability to pressure palsies (peroneal most commonly affected)
PMP22 duplication
CMT1A - most common inherited demyelinating neuropathy. AD but variable expression. chromo 17
inherited demyelinating neuropathy in boys
CMTX - X-linked, second most common inherited demyelinating neuropathy. connexin 32 gene
CMT2
axonal, not demyelinating
later onset than CMT1
severe infantile demyelinating neuropathy
CMT3, Dejerine-Sottas syndrome
symmetric sensory neuropathy (loss pain/temp) and orange tonsils
Tangier’s disease
ATP cassette transporter gene, ABCA1
orange tonsils due to triglyceride deposits
innervation of medial thigh(roots?)
obturator nerve (L2-L4)
innervation of anterior thigh
femoral nerve (L2-L4)
nerve roots of lumbar plexus nerves
2 from 1 (both iliohypogastric and ilioinguinal from L1)
2 from 2 (genitofemoral L1-L2; lateral fem cut L2-L3)
2 from 3 (both obturator and femoral from L2-L4)
hypokalemic periodic paralysis
Calcium!! CACNA1A mutation. dihidropyridine receptor
long attacks of weakness after carbs/exercise, typically the next morning. carbs –> insulin –> K into cells.
risk of malignant hyperthermia
hyperkalemic periodic paralysis
SODIUM SCN4a channelopathy! triggered by brief rest/exercise/cold, shorter episodes. treat with low K diet. can have myotonia too (remember PMC is sodium too)
paramyotonia congenita genetics
SCN4a mutation! triggered by cold. worse with repeated movement
myotonia congenita - defect?
chloride channelopathy
Thompson (AD) - presents in baby/childhood
Becker (AR) - less severe
risk of malignant hyperthermia in both
WARM UP PHENOMENON WITH MYOTONIA CONGENITA
tabes dorsalis phases
- pre-ataxic phase: lancinating pain in legs, sphincter and sexual dysfunction
- ataxic phase: proprio loss, Charcot joint development
- post-ataxic/paralytic phase: spastic paraparesis, autonomic dysfunction
cauda equina syndrome vs conus medullaris
conus: saddle anesthesia (bilateral and symmetric), symmetric pain with no radicular pain. LE weakness, areflexia, bowel and bladder dysfunction, sexual dysfunction early on
cauda equina: radicular pain! asymmetric! asymmetric weakness! bowel/bladder ok until later
sensory levels of base of neck, nipple line, belly button, groin, anus
C4 neck
T4 nipple
T10 belly button
L1 groin
S5 anus
intramedullary spinal cord tumors
ependymoma (adults) - including myxopapillary variant from filum terminale
astrocytoma - kids
present with LMN signs early
extramedullary spinal cord tumors
meningioma (T spine)
schwannomas
neurofibromas
p/w local pain, radicular, early UMN signs
neuropathy where patient walks on insides of feet, UMN signs, vision loss and curly hair
Giant Axonal Neuropathy
AR
death by teens
increased serum phytanic acid levels
Refsum’s disease
retinitis pigmentosa and neuropathy
H reflex
equivalent to monosynaptic stretch reflex
stimulate the tibial nerve (soleus muscle) or median nerve (flexor carpi radialis) or femoral nerve (quads)
difference between Type I, IIa, IIb muscle fibers
Type I: slow oxidative, slow ATPase, large oxidative capacity, SMALL.
LARGE:
Type IIa: fast oxidative, glycolytic, resistant to fatigue(Astudentsdontfatigue)
IIb: fast oxidative, glycolytic - fatiguable
what 2 nerves come from sciatic nerve
tibial nerve (medial) and common peroneal nerve (lateral)
sciatic nerve - nerve roots?
L4-S3
motor neuropathy, normal sensory NCS, conduction block on EMG, + anti-GM1 antibody. diagnosis and treatment?
multifocal motor neuropathy. antibody and conduction block not required for diagnosis, and don’t inform prognosis.
tx with IVIG, rituximab, cyclophosphamide. steroids and PLEX not beneficial and may worsen
inheritance pattern of CMT4
autosomal recessive
inheritance pattern of HSAN, HNPP, and familial amyloid polyneuropathies
autosomal dominant
short head of biceps femoris in leg
peroneal nerve (petite peroneal and short head, vs tall tibial and long head)
long head of biceps femoris in leg
tibial nerve(tall+long-tibial,petite+short-peroneal)
old man with impotence, later orthostatic hypotension worse after meals/heat, nocturia, urinary hesitancy. normal cerebellar and sensory exam
pure autonomic failure
alpha-synuclein deposition in autonomic nervous system. lewy bodies too.
not MSA b/c normal cerebellar exam, not familial amyloid polyneuropathy I b/c normal sensory exam
rimmed vacuoles on pathology
inclusion body myositis
perifascicular atrophy
dermatomyositis
autonomic ganglionopathy vs pure autonomic failure
symptoms over weeks in autoimmune autonomic ganglionopathy (aka acute pandysautonomia) vs slowly over time in pure autonomic failure. pure autonomic failure more likely to present mid-late adulthood
endomysial inflammation on muscle biopsy
polymyositis
inflamm around individual muscle fibers
different manifestations of statin induced myopathy (5)
- asymptomatic CK elevation
- myalgia +/- CK elevation
- muscle weakness + CK elevation
- rhabdo + CK > 15,000
- necrotizing autoimmune myopathy - CK > 6000, rapid onset severe weakness, progresses even after stopping statin. needs immunosuppression
Asian adult man with new onset episodes of periodic paralysis, anxiety, tachycardia, tremor
thyrotoxic periodic paralysis
more common in asian males
give K+ during attacks, beta blockers may prevent. Diamox doesnt work.
treatment of Lambert Eaton myasthenia
3,4-DAP, steroids, PLEX, IVIG
(mestinon doesn’t work)
ALS diagnostic criteria
clinical and/or EMG evidence of both UMN and LMN involvement in 3/4 regions: bulbar, cervical, thoracic, lumbosacral
EMG findings include denervation (fibrillations, reduced recruitment, polyphasic motor units) sensory NCS normal
ALS mimickers
spinocerebellar ataxia type 3 (Machado-Joseph dz)
adrenoleukodystrophy
multifocal motor neuropathy
hyperparathyroid
cervical spondylosis
GM2 gangliosidoses
poly glucosan body dz
paraneoplastic motor neuron dz
HIV
WNV
copper deficiency causes what?
myelopathy (similar to B12), peripheral neuropathy, CNS demyelination, myopathy, optic neuropathy, heme probs like anemia
MRI spine in copper deficiency
T2 hyperintensity at cervical level
lack of improvement after treating B12 deficiency…next step?
check copper
what happens if you take too much zinc
leads to copper deficiency, because zinc pushes copper into the enterocytes and then it is lost when they slough off
a male with proximal muscle weakness + face fasiculations + endo abnormalities
dz and genetic defect?
Kennedy’s disease (X linked)
CAG repeat in androgen receptor protein
where does spinal cord end
L1-L2
weakness after anesthesia
nitrous oxide toxicity
seen in patients with underlying cobalamin (btwelve)deficiency
myeopathy, neuropathy, encephalopathy
can also be seen in anesthesiologists, dentists after longterm exposure to small amounts of NO
Hirayama disease
hirallamaneck-young Asian patients with progressive wasting of one or both hands and forearms. cervical cord thins with neck flexion
spinal cord abscess work up and most common organism?
MRI is very sensitive
CSF not so much, plus risk of spreading infection with LP
most common organism is Staph
relationship between zinc and copper deficiency
too much zinc –> copper deficiency
patient with diabetes, recent weight loss, developed back/hip pain that worsened at night, now has atrophy and weakness of pelvic girdle and thigh muscles. no patellar reflex
diabetic amyotrophy (a polyradiculoneuropathy)
radial nerve is a continuation of which cord? which nerve roots does it carry fibers from?
posterior cord
C5, C6, C7, C8 fibers
truck driver who has numbness/tingling from his wrist to 4th and 5th digits, normal strength. dx and tx?
mild compressive ulnar neuropathy at elbow
conservative management only
how does a severe ulnar neuropathy at/above elbow present?
fine motor probs - weak 3rd and 4th lumbricals, when asked to make a fist patient will make a claw hand because the 4th and 5th digits are too extended at MCP and flexed at IPJ
what’s important about sensation over the hypothenar eminence?
palmar cutaneous branch supplies sensation to hypothenar eminence
arises from ulnar nerve, PROXIMAL to Guyon’s canal. so sensation will be spared with an ulnar neuropathy at the wrist
weak foot dorsiflexion - what nerve?
deep peroneal nerve
weak foot eversion - what nerve?
superficial peroneal nerve
both weak foot dorsiflexion AND weak foot eversion
common peroneal nerve (involves both deep and superficial)
retroperitoneal hematoma can compress what nerve
femoral nerve in the intrapelvic region
involvement of iliacus and psoas tells you femoral nerve injury is where?
intrapelvic, NOT inguinal
iliacus and psoas are innervated by femoral nerve in the intrapelvic region, prior to reaching inguinal region
SNAPs in radiculopathies
NORMAL! because radiculopathy is proximal to DRG
if SNAPs are reduced, think plexopathy or peripheral neuropathy
posterior interosseous nerve palsy
pure motor nerve –> weak wrist extension in ulnar direction
weak forearm extension and absent triceps reflex
C7 radiculopathy
paraspinal fibrillations present
radiculopathy
iliacus muscle nerve roots
L2-L3
quadriceps femoris nerve roots
L3-L4
tibialis anterior nerve roots
L4-L5
neuralgic amyotrophy (Parsonage Turner syndrome)
acute shoulder/arm pain after surgery/vaccination/viral illness which resolves and is followed by weakness
when to EMG a patient with GBS, what findings to expect?
early, and repeat in 3 weeks if indicated.
EMG will show demyelination - prolonged distal latencies, slow conduction velocities, abnormal late (F) responses and H reflex, reduced amplitude of CMAP, conduction block
painless arm weakness years after cancer treatment
radiation induced brachial plexopathy
can see myokymia on EMG
Miller Fisher triad and antibody
ataxia, ophthalmoplegia, areflexia
Anti-GQ1b antibodies in 90%
someone who does repetitive forceful pronation of forearm (work, golf) now comes in with deep ache in forearm and weak finger flexion, wrist flexion and thumb abduction. dx?
pronator teres syndrome
normal strength of pronator teres, but compression of median nerve as it passes between the 2 heads of pronator teres
conditions that predispose people to carpal tunnel syndrome
diabetes, rheumatoid arthritis, chronic renal failure, amyloidosis, acromegaly, pregnancy, obesity, hypothyroid
ganglion cysts and neurofibromas can also compress
painful, circumferential sensory loss in multiple nerve distributions, forearm weakness. happens after AV shunt placement for dialysis rarely
ischemic monomelia
anterior interosseous nerve syndrome
pure motor branch of median
patients complain of weakness grasping things with pincer grasp, can’t make “ok” sign
innervates flexor digitorum profundus to 2nd and 3rd digits, flexor pollicus longus, pronator quadratus
no sensory loss
can occur with trauma, fracture, neurlagic amyotrophy
old man with ataxia and tremor, some mental retardation runs in the family. MRI shows hyperintensity of inf cerebellar peduncle/cerebellum
Fragile X tremor-ataxia syndrome
X linked
typically the grandparent of a kid with Fragile X
CGG repeat in FMR1 gene
clinically resembles MSA
spinal accessory nerve injury
can happen during radical neck dissection
weak SCM and trapezius - can’t turn head or shrug shoulder
jugular foramen syndrome
compression of foramen magnum –> vagus nerve, glossopharyngeal nerve, and spinal accessory nerve affected
MADSAM
Multifocal Acquired Demyelinating Sensory And Motor neuropathy
demyelinating neuropathy with conduction block
asymmetric motor and sensory sx
CSF protein high
no antibodies
tx steroids
multifocal motor neuropathy antibody
anti-GM1
numb over back of hand, due to tight handcuffs, watches, surgery
superficial sensory radial neuropathy
pt with acute stroke, small fiber neuropathy, dark-purplish punctate lesions on trunk, dad had renal failure. dx? inheritance?
Fabry’s disease
Funky autonomics (and small fiber neuropathy), Angiokeratomas, BP, renal failure, y strokes
X linked
a-galactosidase A deficiency, lysosomal enzyme
previously healthy patient now with myalgias, proximal weakness, eye puffiness and double vision. mildly high CK and eosinophilia.
trichinosis - ingestion of uncooked pork
mild gastro –> edema of eyelids, myalgias, ocular muscle weakness - can involve cardiorespiratory
tx: thiabendazole, albendazole
nemaline myopathy - how does it present?
can be severe neonatal to adult-onset forms with proximal weakness, cardiomyopathy and respiratory compromise
genetically AND phenotypically heterogenous - can be AD, AR
abnormal tilt table test
with upright posture, sustained hypotension (>20 mmHg SBP) with no tachycardia –> insufficient sympathetic tone and impaired baroreceptor function.
if hypotension is delayed for several minutes but then suddenly occurs with bradycardia –> neurocardiogenic
acid maltase deficiency (glycogenosis type II)
AR
acid maltase deficiency (AKA a-1,4-glucosidase)
leads to glycogen accumulation
3 forms:
Pompe’s - infantile form, big tongue big heart big liver, hypotonic
childhood - big calves, motor delays
adult - proximal weakness, diaphragm weak
you’redoinggreat
yougotthis
glycogenosis type V
McArdle’s disease
congenital myasthenic syndrome which responds to edrophonium
congenital acetylcholine receptor deficiency (most common form)
congenital myasthenic syndrome that does not respond to edrophonium or pyridostigmine
acetylcholinesterase deficiency
dont have any ACHe to inhibit
Emery Dreifuss muscular dystrophy
contractures at elbows, ankles, neck
muscle weakness of upper arms/shoulder, then later girdle and distal leg muscles
normal IQ
heart involvement! need pacemaker
can be due to emerin (X linked) or Lamin A/C (AD)
AR condition with muscular dystrophy, brain and ocular abnormalities, diffuse brain abnormalities and white matter changes.
Walker-Warburg
(muscle eye brain similar but milder corticla changes, focal WM changes and less eye involvement)
neonatal weakness, contractures, distal hyperlaxity, protrusion of calcanei
Ullrich’s CMD, collagen type VI gene
related to Bethlem
cranial nerves involved in parasympathetic NS
3 - oculomotor
7 - facial
9 - glossopharyngeal
10 - vagus
nerve roots that control parasympathetics of GU system and colon
S2-S4
neurotransmitter in parasympathetic vs sympathetic
parasympathetic - acetylcholine (nicotinic)
sympathetic - mostly norepi (except sweat glands where Ach is released and acts at muscarinic receptors)
localizing Horner’s syndrome - anhidrosis present on half of face
preganglionic (pre-superior cervical ganglion)
fibers to facial sweat glands travel along ECA
think Pancoast tumor, medullary infarction, thoracotomy
localizing Horner’s syndrome - no anhidrosis
postganglionic
lesions to ICA like dissection
myotonicdystrophy type 1 vs type 2
type 1 - distal myopathy
type 2 - proximal myopathy
sympathetic innervation to bladder
intermediolateral cell column of spinal cord at level L1 and L2
nerve roots that relay sensory afferent info from GU system, bladder, anorectal area to spinal cord
S2-S4
Onuf’s nucleus
S2-S4, control of urethral and anal sphincters
mediates the detrusor reflex of bladder
pontine micturition center
voluntary control of micturition localizes where
medial frontal micturition centers in paracentral lobules
Thomsen’s vs Becker’s disease
both are myotonia congenita
Thomsen’s is AD (presents in first 10 years of life), Becker’s is AR (presents in second decade)
chloride channelopathy
myotonia, warm up phenomenon
tx mexelitine
AD condition p/w weakness + contractures of elbows and ankles, plus hyperextensible interphalangeal joints. Collagen VI mutation
Bethlem myopathy (remember Bethlem and Ullrich are collagen,Ullrichmoresevere,neonatal)
weak finger flexors, but ok finger abduction with weak knee extension and lower extremity weakness
inclusion body myositis
males > 50
no assoc with cancer
inflammatory
Nonaka myopathy
looks like inclusion body myositis on histopath(rimmedvacuoles) but is hereditary, not inflammatory
weakness is more distal
orthostatic hypotension meds
pyridostigmine (incr ACh and acts at nAChRs at ganglia)
fludrocortisone (expands plasma volume and increases vascular alpha receptor sensitivity)
droxidopa (converts to NE)
midodrine (vasopressor)
anti-SRP antibodies and statins
necrotizing myopathy
antibody assoc with statin use, but discontinuing statin doesnt help. treatment with immunosuppression
innervation of rhomboids
dorsal scapular nerve!
arises from C5
chronic denervation can lead to intrascapular wasting
C5 lesion can also lead to weakness of ipsilateral diaphragm (phrenic nerve C3-C5)
suprascapular nerve entrapment - causes, symptoms?
can occur in athletes or trauma (shoulder dislocation, scapular fracture)
poorly localizable shoulder pain, weakness of supraspinatus (abducts arm during first 30 degrees) and infraspinatus (externally rotates shoulder when elbow is flexed)
long thoracic nerve injury
C5, 6, 7
scapular winging
(innervates serratus anterior)
scapular winging can also occur with rhomboid weakness
thoracodorsal nerve - what cord? what muscle?
arises from posterior cord
innervates latissimus dorsi (adducts arm)
obese man with diabetes presents with pain and patchy sensory/motor changes in thoracic and abdominal area
thoracoabdominal polyradiculopathy
usually unilateral, can be bilateral
thought to be ischemic radiculopathy
absent superficial abdominal reflexes and patchy sensory loss around T10-T12
neurogenic thoracic outlet syndrome(roots?sx?)
compression of C8 to T1 with repetitive movements, as brachial plexus passes through scalene triangle
worse with arm abduction and external rotation
weak intrinsic hand muscles and sensory loss in C8-T1 distribution
medial ventral forearm sensory from C8
lateral forearm is T1
HSAN Type I
Most common - AUTOSOMAL DOMINANT (only HSAN that is AD)
presents in young adulthood
Painful sensory symptoms - shooting pains in limbs
pain and temp loss > proprio/vibr
dont sweat - hearing loss
HSAN Type II
AUTOSOMAL RECESSIVE
begins in infancy - the CCHMC girl who scraped her foot in the pool
generalized loss of sensation, insensitivity to pain
normal cognitive function
areflexia and retinitis pigmentosa
not a lot of autonomic symptoms
HSAN Type III
Riley-Day syndrome, familial dysautonomia
“THREE BP” - prominent dysautonomia
AUTOSOMAL RECESSIVE!!! doesnt follow Sam’s rule
prominent autonomic symptoms in infancy - BP all over the place, dysphagia, vomiting, infections
emotion –> hyperhidrosis, skin flushing, HTN
but no crying
absent fungiform papillae on tongue (smooth tongue)
HSAN Type 4
AUTOSOMAL RECESSIVE!!
congenital insensitivity to pain
cognitive delay
heat intolerance, lots of fevers but never sweat
causes of mononeuritis multiplex
2+ nerves, acute/subacute, irregular intervals
vasculitic neuropathy - polyarteritis nodosa, Wegener’s, Sjogren’s, Churg Strauss, cryoglobulinemia, Lyme, HIV
less common causes - sarcoidosis, paraneoplastic, amyloidosis, leprosy, lupus, rheumatoid arthritis, lymphoma, diabetes
cryoglobulinemia - symptoms and diagnosis
constitutional symptoms, palpable purpura, joint pain, big lymph nodes, big spleen/liver, peripheral neuropathy (mononeuritis multiplex)
can cause CNS stroke
assoc with Hep C (c for cryo), sometimes HIV , multiple myeloma, connective tissue disease
dx: protein precipitation with cold, decreased complement levels
tx: steroids, cyclophosphamide
pain and redness of limbs with exercise and warm weather. otherwise healthy. dad with similar sx
primary erythromelalgia
AD
SCN9A gene –> hyperactive dorsal root ganglia
secondary causes include myeloproliferative d/o, lupus, autoimmune probs
distinguish from Fabry’s because Fabry’s will show small fiber neuropathy and will not be so episodic
progressive sensory deficits that are not length-dependent, patchy and asymmetric. sensory ataxia and areflexia common but normal strength - what is it? work-up?
sensory neuronopathy (DRG affected)
B6 overdose, paraneoplastic (anti Hu in small cell lung), malignancy, Sjogren’s
diagnostic work-up: Schirmer’s test, SSA and SSB antibodies, lip biopsy to detect inflammation in small salivary glands. Also consider HIV, HTLV1, EBV, VZV, measles, etc.
erb’s palsy
upper trunk lesion - common birth injury
waiter’s tip - arm adduction, internal rotation, forearm extention, pronation,
normal pronator teres, triceps, triceps DTR because C7 not affected (that would be middle trunk)
normal rhomboids means it’s not a root problem of C5/C6
rhomboids affected
C5 C6 nerve ROOT
rootboids!
how to tell L5 radiculopathy from common peroneal neuropathy
both cause foot drop
but NCS is key:
common peroneal –> abnormal superficial peroneal SNAPs
L5 –> normal superficial peroneal SNAPs(radiculopathies-normalNCS)
ALSO, involvement of tibialis posterior and flexor digitorum longus means L5 because those are innervated by tibial nerve and not common peroneal
gluteus maximus
inferior gluteal nerve
gluteus minimus and medius
superior gluteal nerve
myotonic dystrophy inheritance
autosomal dominant (both types - Type I and II)
myokymia assoc with…
radiation
GBS
intramedullary pontine tumor
demyelinating dz
can’t make the “OK” sign, sensation intact
anterior interosseous nerve compression (median nerve branch)
MRI of metachromatic leukodystrophy vs Krabbe disease
MLD - symmetric subcortical demyelination, corpus callosum and cerebellar WM changes
Krabbe - abnormalities in internal capsule, brainstem, small thalami and splenium, normal callosum signal
both will have tigroid appearance
SMA Type 1 genetics (inheritance, gene, chromo)
AR
deletion/mutation of SMN1 on chromosome 5q
impaired splicing of precursor mRNA
what 2 things are elevated in the Marfanoid syndrome with ectopia lensis and strokes? tx?
homocysteinuria
elevated homocysteine and methionine
tx low protein diet, pyridoxine (some forms are responsive)
what % of NF1 cases are sporadic?
50% sporadic, 50% inherited
palmitoyl protein thioeterase
infantile form of NCL
progressive motor dysfunction starting at 6 months, vision loss by 1 year
most common MELAS mutation
MTTL1 gene encoding for mitochondrial tRNA
NARP syndrome
mitochondrial heteroplasmic mutation
neurogenic muscle weakness, ataxia, retinitis pigmentosa, periph neuropathy
heteroplasmy of NARP = 70-90%
>90% = Leigh syndrome
alpha-iduronidase mutation
Hurler’s!
iduronate sulfatase deficiency
Hunter’s! - hunters have no SOULfatase
DYT1 genetics
autosomal dominant - GAG deletion
TOR1A - torsin A protein affected
low penetrance - 30-40% of ppl with mutation will have phenotype
myotonia congenita channel affected
chloride CLCN1
low HDL, low total cholesterol, orange tonsils
Tangier disease
ATP cassette transporter mutation
familial amyloid polyneuropathies - types 1-4
FAP type 1 - presents in 20s-40s - pain and Temp affected, dysautonomia
FAP type 2 - later onset, no dysautonomia, carpal tunnel syndrome
FAP Type 3 - heart, kidneys, liver involved, laryngeal dysfunction
FAP type 4 - cutis laxa - loss of skin elasticity and tone
muscle eye brain vs Walker Warburg
muscle eye brain is less severe than Walker Warburg
Walker Warburg - severe retinal/eye malformations - microophthalmia, dysplasia, cataracts, optic atrophy
and more severe/diffuse brain changes
both are AR, WW on chromo 9 and MEB on chromo 1
split hand phenomenon in ALS
intrinsic hand muscles affected more
APB and FDI
abductor pollicis brevis and first dorsal interosseous more involved (thenar eminence)
the sound of fibs on EMG
regular repeating pattern
muscle continuously depolarizing itself
sound of fasciculations on EMG
slow, irregular(sloooowertosayfasiculations)
more random than fibs
man in 30s, weak upper arms then pelvic girdle then distal legs. cardiomyopathy. dx and genetics?
emery dreifuss syndrome
X linked version - emerin
AD version - laminin A/C
need pacemaker and PT
distal hypermobility and protrusion of calcanei in a baby with contractures
Ullrich CMD
collagen mutation
Klumpke’s paralysis nerve roots
C8-T1
rough delivery or rock climber/tree swinger
calpain 3 deficiency
weak abdominals and hamstrings and scapular winging
AR
calpain 3 deficiency
weak abdominals and hamstrings and scapular winging
AR
first SMA treatment and MOA
nusinersen - antisense oligonucleotide (intrathecal)
alters the splicing of SMN2 mRNA to basically convert it to functional SMN1 protein
the 2 other SMA treatments after nusinersen
onasemnogene abeparvovec (IV-administered adenovirus vector gene therapy )
risdiplam (oral small molecule modifier of SMN2 pre-messenger RNA splicing)
Lab findings in POEMS syndrome
Polyneuropathy
Organomegaly
Endocrinopathy
M protein
Skin changes
labs: high VEGF, low EPO
Most acquired neuropathies are what: axonal or demyelinating?
What are the 2 exceptions?
Most acquired are axonal
Exceptions: CIDP, MGUS
Heavy metals that cause peripheral neuropathy
Mercury
Arsenic
Lead
Thallium
(MALT)
Heavy metal causes wrist drop
Lead
Which CMT are demyelinating
CMT1
CMT3
CMTX
CMT4 is both demyelinating and axonal
Which CMT are axonal
CMT2
CMT4 is both axonal and demyelinating
Onion bulb on nerve biopsy(not brain biopsy!)
CMT1A or CIDP
Demyelinating, remyelinating
Baby with Palpable peripheral nerves, no reflexes, proximal hypotonia and onion bulb nerves on biopsy
CMT3 dejerine sottas
Which CMT is AR
CMT4
It’s also axonal & demyelinating so it’s just kinda weird overall
Fabry disease inheritance, gene, accumulate
X linked
A-galactosidase mutation
Globotriaosylceramide build up
Refsum disease tx
Low branched fatty acids in diet
SOD1
Familial ALS
ALS meds and MOA (2)
Riluzole- glutamate inhibitor
Edaravone - free radical scavenger
Multi focal motor neuropathy tx
IVIG
TDP 43 inclusions
ALS
Bunina bodies
ALS
Most sensitive test for MG
Single fiber EMG —- > jitter
50 Hz stim shows incrementation
Lambert Eaton MS
Also botulism
MG with sparing of ocular muscles, prominent facial, bulbar, neck involvement
Anti MuSK
3rd most common antibody in myasthenia
Anti- LRP4
(After MuSK and AchR)
Striational antibodies
Myasthenia with thymoma
Anti-titin
Anti ryanodine
Amifampridine
Same thing as 3,4- diaminopyridine (3,4 DAP)
Tx for LEMS
Blocks presynaptic K+ channels - let’s calcium for its thing
DMD medication
Eteplirsen
Antisense oligomer - exon 51 - exon skipping of dystrophin mRNA
Dysferlin mutation
Limb girdle muscular dystrophy
“dis for limb girdle”
how to tell inherited vs acquired demyelinating neuropathy on NCS
temporal dispersion only seen in acquired demyelinating
no temporal dispersion or conduction block –> more likely inherited (only exception is Hereditary liabiliity Pressure Palsies has conduction block)
