226. Accepted

Mirror Movements

Mirror Movements (Spiegelschrift)
1st described by Dr. Friedrich Albrecht Erlenmeyer (1849–1926)
Grundzüge ihrer Physiologie und Pathologie, 1879

Definition
"Involuntary movements on one side that mirror voluntary actions on the other"
-Normal in <7–10yo (CC myelination), 70% healthy children (on speed-based task)

Pathophysiology
Three teories
-Overflow
> signal 'overflows' to the other hand 
-Weak interhemispheric inhibition
> both hemispheres fire together
-Abnormal crossing motor pathways
>same commands go to both hands
Key quests
-Development & family history
-Cognitive & neuropsych

Exam
-Rapidly finger‑tap, open/close the fist, or perform pronation-supination
>MC in UEs
>Watch the “quiet” hand

-Woods & Teuber scale
0→ none
1→ barely
2→ clear, mod amplitude (<50%); 2a (slight) & 2b (strong)
3→ clear, large amplitude (>50%)
4→ complete, unable to supress
W&T=0
No clear imitative movements. Right hand is active and left hand is scored
W&T=1
Barely discernible repetitive movements. Right hand is active and left hand is scored
W&T=2a
Slight mirror movements. Right hand is active and left hand is scored
W&T=2b
Stronger, but briefer, repetitive movements. Right hand is active and left hand is scored
W&T=3
Strong and sustained repetitive movements. Left hand is active and right hand is scored
W&T=4
Movements equal to those observed in the active hand. Left hand is active and right hand is scored
Diagnostic work-up
-Affect QoL, otherwise no need
>Children unable to climb a ladder because releasing one hand makes the other involuntarily release too
>Painful compensatory shoulder contractions while writing
-Adults→ secondary (affecting CST)
>normal: fatigue, stress, high cognitive load, and aging
>investigate, if new in adulthood

Electrophysiology
-TMS
>Patho: simultaneous response & normal latency
>Physio: delayed responses & longer latency
-EMG: synchronous recruitment of homologous muscle groups, often with near‑identical timing to the voluntary contraction
-CMM demonstrates coactivation without delay

Neuroimaging
-bMRI to evalaute CC
>DTI→ ↓FA CC
>Asymmetric sigmoid bundle
-fMRI→ resting‑state   
-c-spine MRI
>spine abnormality
>vertebral fusion→ KFS

Genetic
-DCC (>80% of cases), followed by RAD51, NTN1, and ARHGEF7

Clinical Pearls
MM vs synkinesias
-Synkinesia→ no mirror

MM vs Imitation
-Imitation→ frontal lobe disinhibition (≠ behavior)

MM vs affected hand
-PD→ less affected hand
-CBS/CJD→ more affected hand
*MM co-exist w/ alien hand phenomenon: early (CJD) vs late (CBS)
-ET→ either
-HD→ UHDRS TMS correlated w/ MM

Treatment
-PT/OT→ bimanual independence, adpt at school/work
>HABIT-ILE→ CP-related MM
-Botox→ contralateral dystonia
-PD→ dopamine therapy adjustment
-Surgical→ no effect
-TMS→ research

Etiology
CMM
Mutations affecting CST
-DCC: req for CST axon guidance
-NTN1: chemoattractant for decussating CST axons
-RAD51: axonal migration & midline crossing indirectly
-ARHGEF7: cytoskeletal remodeling for CST

DCC
DCC
RAD51
PD
May precede motor asymmetry
-Asymmetric DA degeneration
-Loss of striato‑thalamo‑cortical regulation of motor suppression
-Inc motor overflow 2/2 impair inhibition

PD
PD
PD
-not really MM, but overflow
-RSM w/ mouth moves
LID


Others
-Focal hand dystonia
>if contralateral use, MM-dystonia 
>Botox contralateral
>Rare sensory coupling
-Klippel-Feil syndrome
#FND→ TMS
-Other craniovertebral anomalies
#KFS
-Kallmann syndrome
-Joubert syndrome
-Stroke
>R MCA territory infarct
>Limitation QoL
-CJD
-Tumor
>M1 resection
-KMT2B
Others
-ALS
-HD

Syncope vs Seizure

Syncope vs Seizure
Fainting by love in Philadelphia Museum of Art
The Doctor's Visit by Jan Steen

Syncope spectrum
-Normal
-Prodrome→ early autonomic sx
-Presyncope→ near-syncope
-Intermediary→ gray-out/ syncope threshold
-Syncope
-Recovery
 
Clinical history

What EXACTLY happened before, during, and after the event?
-open-ended quest at begining, than close
-LOC, incotinence
-Witness and recurrence
*avoid term fainting
-Triggers (sleep dep, drugs, stand) vs premonitory symptoms
-Eyes (open & position & pupil)
-Tunnel vision/ Black curtain
-Chest palpitations before fall
-BP & POC at arrival of EMS
Ask szs risk factors
-FH and personal PMH
-Developmental delay
-TBI/ consussion
-Febrile seizure

Fall pattern & awareness
-Velocity, stiffness, injury pattern, movement, color, sound, timing, and recovery
-Time to return to baseline, not for to be awake!
Convlusive syncope (aka syncopizing szs)
-Szs provoked by syncope (hypoperfusion)
-Myoclonic > tonic moves
≠Recovery-time, color, and trigger
≠Myoclonus <10 movs, irreg amplitude, asynchronous
≠Abnormal move start after LOC (Szs start at same time)

Etiology
Szs 2/2 electrical discharge and syncope 2/2 hypoperfusion
-Syncope etiology-based classification→ ROCks!
Differentials of LOC
-Syncope vs szs
-FNDs (syncope and szs)
-TIA (posterior circ)
-Metabolic (HypoGlycemia, drugs)
-Concussion
-Sleep disorders (cataplexy)
-Drop attacks
-Panic attacks
-Migraines

Physical exam
-Look at skin and tongue/mouth s/f bruises & sweat
>Lat lac→ szs (SN 33%, SP 96%)
-Pupils→ autonomic fx
>szs→ midriasis, rare hippus; syncope→ no chage (usual) 
-Orthostatic BP measurement
>OH vs nOH→ HR response
±Ewing battery s/f dysautonomia

Investigation
Inhospital
-EKG+Telemetry
-TTE
-rEEG±cEEG
±Neck vessel imaging→ s/f stenosis
±Lactate + CPK + Bicarb
±HypoP (SN20, SP93) + prolactin

Outpatient
±Ambulatory EEG
±MCOT/ILR

Indications for Tilt Table Test study
Cases non-diagnostic by H&P, ECG
-Vasovagal syncope vs POTS vs functional
-Syncope from szs
-Dx of delayed orthostatic ⬇️BP
-To recognize prodromes and perform countermeasures

Seizure likelihood
-Sheldon score
>"Have you ever woken up somewhere unusual with no memory of how you got there—blood in your mouth or strange, hard‑to‑explain sensations?"
Follow-up
≥ 2 episodes of LOC→ DMV (state-dependent)

Video
Seizure
Syncope
-Reflex orthostatic posture
Syncope
-Reflex orthostatic posture
Seizure
Syncope in heavy weight lifters
-Heavy lift + breath holding
Syncope (MSs)
-Induction of syncope
-Falls
-Akinetic syncope
-Myoclonus
-Other Movements
-Eye Movements

Cognitive changes

Cognitive Changes
Alois Alzheimer (1864 – 1915), German psychiatrist and neuropathologist

Referral
-word-finding difficulty (tip-of-the-tongue phenomenon)
-memory complaints (often vague, sometimes language-related)
-dissect complaints into domains

Cognitive Domains
Use SAMPLE
-Social→ behavior
-Attention→ focus
-Memory→ retention
-Perceptual/ visuospatial→ navigation
-Language→ only language
-Executive function→ multisteps

Information gather
-pt & collateral equally
>Anosognosia vs high self-aware
   high-performer→ subtle changes
   low-performer→ under-recognize
-Normalize aging
"Have you noticed anything like that for yourself compared to your friends?"
-Comparative qs (now vs 1y ago)
>ADLs after baseline

ADLs
-Basic
>Eat, bath, dress, toilet, transfer, grooming
-Instrumental
>Managing meds, finances, cook, shop, housekeep, transportation

Multifactorial nature
-Avoid attributing changes solely to lab abnormalities
-Acute events (UTI) may unmask underlying impairment
-NDG vs non-NDG

Considerations
- LATE is an histopath dx
- PPA is divided into FTD (svPPA & nfvPPA) and AD (lvPPA) like

Physical exam
-Focal deficits→ sugg vasc
-EOM abnormality
-PD sx
-Gait
-Palmomental rfx & Myerson

Diagnostic tools
-MoCA (preferred)
> assess sAMPLE, 's' is talking w/ pt
If unclear pattern, do
>Trail A&B→ processing & executive
>BNT→ language
>Dig span→ attention + work memory
-MMSE
> if severe dementia (higher ceiling effect)
> assess mainly sa'M'p'L'e
> convert MoCA to MMSE

-Others
>ACE→ specialist
>Minicog→ PCP screening
>Fluency→ phonemic (AD) vs category 

-NeuroPsych test→ domain-level profile
>High-performers for subtle complaints
>Discrepancy btw pt & family
>Legal quests
>Suspected FTD, PPA, atypical AD
>Mood vs cognitive

Investigation
-Reversible causes of dementia
>CBC, BMP (Ca), vitamins (B12 & MMA & HMC, folate, D, thiamine/ETKA), TSH, HIV, RPR
±ATN profile ±pTau217 (outpatient)
±APOE genotyping
±CSF amyloid

-if rapidly progressive→ LP
> CJD→ RT-QuIC, 14-3-3, t-tau
> AIE→ serum&CSF AIE panel
>SREAT→ anti-TPO, anti-TG, TSH cascade

-Neuroimaging s/f WMC, infarcts, atrophies
>bMRI ± NeuroQuant
±Amyloid PET (outpatient)

AD Treatment
*divided by severity 2/2 insurance

Traditional meds
-AChEi (donepezil, rivastigmine, galantamine)
> N/V & diarrhea; check EKG 2/2 QT
*PDD→ RVS Patch
-Memantine
> early confusion & dizziness; CI szs

Anti-amyloid therapy
-Lecanemab & donanemab
-Specialist

Lifestyle
-Sensory optimization: hearing and vision tests
-Exercise
-Healthy diet
-Cognitive & social engagement
-Always assess caregiver burden

Headache - basics

Headache
Basics
Figure from Codex Vindobonensis 93 (12th century)

Primary or Secondary?

1st question - onset

Hyperacute→ think vascular
Acute/subacute→ broader ddx
Chronic→ reassure if unchanged

Use SNOOP4 for screen secondary causes
Characterize

-Pain features - "SOCRATES"
> quality (throbbing, pressure, stabbing)
> duration & frequency
> associated sx (photo/phonophobia, N/V, auto sx)
*open-ended, avoid anchoring
*migraine term is freq 'mis'used
*reverse-HA hx, ask
"How many days per month do you NOT have HA?"
≠ bad vs mild HAs
>medication use freq

What NOT to miss

-GCA→ ESR/CRP, visual changes, chew
-IIH→ worse laying, pulsatile tinnitus, visual obscuration, VI palsy
-CVST→ focal neurological sx, pointing sign
-IHypo→ worse standing, post-LP
-RCVS→ recur thunderclap; stimulant, marijuana
-MOH→ Vit A (seal liver), decongestant

Primary etiologies

-Migraine→ U/L, pulsatile, photo/phonophobia, aura, nausea
-TTH→ B/L, pressure-like
-TACs→ tear, rhinorrhea, ptosis
> cluster, PH, SUNCT/ SUNA, HC
-Others (Ten list)
> cough, exercise, sexual, thunderclap, cold, external-pressure, stabbing, nummular, hypnic, NDPH

Non-HA mimics

-Sinusitis
-TMJ dysfunction
-Cervicogenic pain
-Refractive errors
-Neuralgias
Physical exam

-Fundoscopy - papilledema
-CN - vision, facial pain, diplopia
-Weakness or sensory loss
-Meningeal signs
-Touch head, s/f tender & triggers
>TMJ, OCN, cervical, MSK (traps)

Work-up

NO imaging, if all
-HA is clearly migraine or TTH
-Normal NE
-Long-stand stable pattern
-No red flags

Order imaging, if
- ⊕SNOOP4 screen

Do LP, if
-C/f IIH; check OP
-High c/f SAH w/ ⊖ CTH; check RBC
-C/f infection, inflammatory, neoplastic

Management

-Aim near-full improvement (last guideline 2025), before 50%
*Caution: improvement w/ meds do NOT  define if HA is 1st or 2nd

Inpatient
HA cocktail
-Hydration + sleep (benadryl & compazine) + antiemetics (metoclopramide) + IV Mg +/- NSAIDs (ketorolac 30q8, max 5d)
*order standing
- if refractory:
> MTP 125 mcg 1x/d for 5 d
> VPA 500q8h for 5d

-DHE
> 1mg IV, max 3 mg/d
> need telemetry; check EKG, avoid if CAD or aura

Outpatient
Acute/ abortive
- OTC (ibuprofen, acetaminophen)
* adv freq and MOH

-Triptans
> sumatriptan 50q2hr; max 200 mg/d
> if PO fails→ nasal/ SC
> adv max dose and avoid CAD

-Gepants (nurtec, qulipta, ubrelvy)
> Nurtec & qulipta can acute&prev
> Ubrelvy 50-100 q2h, max 200

-Fioricet (butalbital–acetaminophen–caffeine)
> avoid, high-risk MOH, HA ≤2 d/mo

Preventive
Consider when > 2 HAs/wk

-Supplements
-TCA
-BB/ CCB
-ASMs
-CGRPs
-Botox
Lifestyle
-Avoid triggers (advised the pt to observe)
-Healthy diet
-Sleep, hydration, exercise, and avoid stress
-Moderate caffeine

Pt education
-Set expectations: trial-and-error is normal
-Emphasize early use of abortive meds
-Avoid medication overuse
-Encourage HA diary
>day, features, medication

225. Accepted

Diagnosing neuropathy

Diagnosing Neuropathy
Clinical Pearls
"There are numbness, tingling, and burning pains in the feet, with weakness of the legs, so that the patient walks with difficulty and unsteadiness"
Sir William Osler (1849 – 1919), Canadian physician

Presentation
Referral "neuropathy," self-dx googling numbness/tingling
-hard numbness≠tingling≠weakness

-true negative sx (loss) are more specific
>unable to feel floor T°
>unable to sense sand/cold surfaces

-positive sx (gain) are nonspecific
>dd: CVI, MSK, compression, positional

Localizing

P.neuropathy patterns
-stocking-glove distribution
>1st stocking knee level → 2nd hands: likely DM
-dist → prox progression in limbs
-symmetric sensory loss

Ddx patterns
-only the legs, not feet → unlikely neuropathy
-nocturnal hand numbness relieved by shaking → CTS
-lat thigh numbness in obese/tight clothing → meralgia paresthetica
-shooting pain into arm → cervical radiculopathy

Constant vs Intermittent

Constant → more likely neuropathy
Intermittent → more likely non-neuropathic

Clinical pearl:
Ask patients to close their eyes, focus internally, and report any abnormal sensation in their feet
>If they report nothing, neuropathy becomes less likely

Pain

Neuropathy pain: burn, electric/shock, stab

Less likely neuropathy
-isolated focal spot pain
-predominantly aching pain (usually MSK)
> foot palpation/press (plantar fasciitis)
> flat-foot (arthritis)

Neuropathic pain typically
-worsens at night
-worsens with walking/standing

If pain improves by walking at night → consider RLS

Review of systems
-always ask autonomic, bulbar, fever, weight, and skin changes

-autonomix sx
Orthostatic lightheadedness/syncope
Gastroparesis (early satiety, bloating, vomiting)
Abnormal sweating
Urinary retention
Bowel dysfunction

Autonomic sx

Auto sx are SN but not SP of true auto dysfx (AD)
Ex dry mouth/eyes (medications, Sjögren’s, etc.)
-complain w/o ask → ⬆️ SP

High SP clues:
True OH symptoms require stabilization
Severe early satiety with minimal intake

PE

Gait
Walk normal, heels (dorsiflex), toes (plantarflex), tandem, Romberg
*Normal gait & toe/heel walk usually no severe neuropathy

Motor ex
Focus on strong msc
-tibialis ant (dorsiflex)
-gastrocnemius (plantarflex)
Not able to break in a nml pt
-toe strength is too easy to overpower

Sensory ex
If no TF
-cotton/kleenex for light touch
*cotton → finger → press
*monofilament more SN for % of ulcer

-pin/ pinprick
*compare toe → ankle → knee for gradient
Ask: “do these feel the same?” (not “is this normal?”)
*if toe is 100%, how much is knee? >80% → normal
*if ask to repeat → normal
*if not feel pin, do dull part; if not feeling both → absent pinprick

Temperature
-ice pack/ metal can is more objective

Proprioception & vibration
Subjective
Vibration is more objective
test toe → ankle → knee

Reflexes
Absent ankle reflex support neuropathy
If ankle reflex are present, neuropathy is usually not severe

Other PE clues
Foot ulcers → severe neuropathy; often DM or hereditary
-ulcer is sensory & autonomic (heal impair)
-avoid nerve bx → wound not heal
High arches + hammertoes → possible CMT
Marked leg atrophy → chronic neuropathy

Initial lab workup
CBC, BMP, LFTs, A1C, lipid panel, Vit B12, folate, B1, Cu & Zn, B6
Avoid ordering initially unless referring
SPEP/ UPEP

When EMG
Do NOT order EMG/NCS
-obvious cause (malnutrition, uncontrolled DM)
-check baseline

Order EMG/NCS
-motor weakness
-gait impair
-rapid progression
-phenotype is unclear
-refer to neuro

U&L limb testing prevents mislabeling severity
*if upper nml → no severe

Small fiber neuropathy
True isolated SFN is rare

Criteria:
-normal EMG
-abnormal exam (temp/pinprick)
-abnormal confirmatory test (QST, skin biopsy)
*biopsy abnormal in high% of population

SFN vs fibromyalgia; exam findings are key

Time as a diagnostic tool
Following the patient over 2–3 months helps differentiate
-static sx → less likely serious
-progressive sx → refer & evaluate urgently
Patients often misjudge onset; serial exams are invaluable


Man‑in‑the‑Barrel Syndrome (MIBS)

Man‑in‑the‑Barrel Syndrome (MIBS)


Drunkard’s Cloak by Alice Morse Earle

Definition
B/l UE weakness (brachial diplegia) w/ normal strength in the face, neck, and LE

Etiology
- watershed infarcts or ABI
- NMJ disorders
- b/l brachial neuropathy
- MND
- pontine myelinolysis
- cervical SCI, syringomyelia


MIBS 2/2 Bi-brachial MND

MIBS 2/2 Bi-brachial MND


GCA - Neurology

GCA - Neurology

2022 ACR
Absolute requirement: ≥ 50 yo
Points-based criteria: ≥6 points

Scores
- Southend GCA Probability Score (GCAPS) is sensitive
- Bhavsar‑Khalidi (BK) Score is specific
> does not include age, but theoretically only used for > 50 yo
- HAS‑GCA Score incorporates neuroimaging in GCAPS
> neuroimaging is additive

Treatment
- MTP pulse 250-1000 mg/d for 3 days
If oral, prednisone 60 mg/d
> after remission, taper pred for 20 mg for 3 months, and 5 mg for a year
- start tocilizumab 162 mcg/wk ASAP by ACR

Angelman syndrome

Angelman Syndrome
Dr. Angelman used the term "Happy Puppet Children"; he reportedly conjured this term after seeing the painting "Young Man with a Drawing of a Puppet" at the Castelvecchio Museum in Verona

Genetics
- Maternal deletion, paternal imprinting in 15q11-13
- MCC UBE3A deletion
*minority from paternal uniparental disomy
*Prader-Willi Syndrome is the opposite

Clinical manifestations
- happy demeanor: inappropriate laugh
- stiff/ataxic, tremulous limbs, flap hands when walking
- lack of speech, gesturing for communication
- stereotypies, fascination w/ water-related items & crinkly items
- hypopigmentaion of hair, skin, eyes
- microcephaly, severe ID

Epilepsy
- > 80% of patients
- EEG: high amplitude, rhythmic 2-3 Hz frontally-based activity with intermittent epileptiform discharges
- delta notch

Diagnosis
Methylation analysis with FISH or microarray
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