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Disease/Pathophysiology Epidemiology Signs and Symptoms Migraine Headache -Vascular and neurochemical disruption (serotonin depletion) -Cortical spreading depression decrease in blood flow begins occipitally vasoconstriction (aura) followed by vasodilation and release of inflammatory mediators -Female predilection, first attack often in childhood, genetic link -Triggered by stress, hormones, menstrual cycle, lack of sleep, chocolate, red wine, cheese, coffee) -Recurrent moderate - severe h/a of variable frequency in frontotemporal, ocular areas -Usually unilateral (hemicrania) -Prodrome: mood disturbances*, nausea, food cravings -20% of pts have an aura: dizziness, tinnitus, photophobia, scotomas, hemianopsia, scintilla, fortification, unilateral paresthesias or weakness -Classic migraine (w/aura) vs. common migraine (no aura) - 80% -H/a is gradual onset by progressively intense throbbing, pulsatile -Associated with N/V, photophobia, phonophobia, dizziness, myalgia, vertigo -Aggravated by physical activity and exertion -Postdrome: food intolerance, impaired concentration, fatigue, muscle soreness -Risk of stroke x2-3 in migraine pts, esp women on OC, aura pts, migraine variants Variants of migraine h/a: Basilar migraine -Vertebrobasilar vasoconstriction Diagnosis Treatment -Analgesics/NSAIDS TOC for mild/moderate h/a: aspirin, ibuprofen, naproxen, ketorolac -5HT1 receptor agonists (Triptans) direct vasoconstrict cranial arteries, can decrease headache of meningitis, subarachnoid bleed -Ergot -Narcotics - Demerol -Supportive: dark, quiet room, withdrawal from stressful surroundings, sleep, cold compress -Prophylaxis: 1) TCA (amitryptyline), beta-blockers, 2) CCB, relaxation training, acupuncture -Herbs: feverfew, ginger, cannabis -Occipital h/a - aphasia, decreased hearing, vertigo, tinnitus, ataxia, visual changes, N/V, dizziness, bilateral paresthesias, LOC -Transient unilateral hemiplegia/hemiparesis -Ptosis, mydriasis Hemiplegic migraine Ophthalmoplegic migraine -Palsy of ipsilateral CN III Status migranosus Migrainous stroke -Persistent migraine, does not resolve on its own -Neurological deficits persisting beyond migraine attack - looks like ischemic stroke on CT -Migraines >15 days/month for >6 months Chronic migraine Tension Headache -Associated with muscular and psychogenic factors -MC chronic recurring h/a syndrome -Higher incidence in depression -Episodic: associated with stressful event - self limited -Chronic: recurs daily, bilateral -Gradual onset, bilateral bifrontal-occipitonucchal location - band around the head, pressing, tight -Worsens throughout the day -Pain is mild - moderate, may occur under emotional distress or worry -No N/V, may have photophobia or phonophobia -Muscular tightness and stiffness in neck, furrowed brow, tense masseter muscles, poor posture -May have tenderness in scalp or neck, insomnia, teeth grinding, difficulty concentrating Cluster Headache -Hypothalamic hormonal influences, pain @ level of pericarotid and cavernous sinus complex -Symp & parasymp input from brainstem -Least common, M>>F -Triggered by stress, extreme temp, alcohol, certain food, altered sleep habits -Episodic (MC) vs. cluster -Excruciating, penetrating, piercing, stabbing, exploding pain that begins after pt goes to bed -Associated with ipsilateral lacrimation, miosis, conjunctiva injection, nasal congestion, rhinorrhea, ptosis, sweating, eyelid edema, Horner’s syndrome -Acute attack: NSAIDs (naproxen, ibuprofen, Tylenol, aspirin), triptans -Prophylaxis: anti-depressants -Supportive: relaxation, rest, massage, heat packs, regular exercise, balanced meals, spinal manipulation DDX: ictal headache -Acute: O2 100%, Samaritan DOC -Prophylaxis: verapamil, ergots, steroids -Refractory: nerve blocks, neurosurgery Other: ice/heat, caffeine, water, vigorous exercise/sex at onset Headaches in general-- -Life threatening etiology symptoms: new onset, change in character, progressively intensifying, abnormal vital signs, fever, AMS, abnormal neurological findings, seizures*, meningismus*, DBP > 130, headache > 72 hours, onset >55 y.o. -DDX OF HEADACHE: -Hypertensive h/a: -Hypoxia-induced: -Subarachnoid hemorrhage: -Aneurysm/AVM: -Meningitis/encephalitis: -Subdural, epidural hematoma -Brain tumor -Trigeminal neuralgia -Temporal arteritis -Sinusitis -Acute glaucoma -Cervical spondylosis -TMJ syndrome -Rebound analgesic h/a -Intracranial pathology -Exertional headache Traumatic Brain Injury -Insult to the brain from external mechanical force -Systemic BP becomes determinant of cerebral blood flow (hypotension fatal) -Can be deceleration, acceleration, coup, contrecoup -Primary brain injury: initial structural injury resulting from trauma -Secondary brain injury: subsequent injuries: hypotension, hypoxia, ^ICP -M≫F, more common <35 -MCC MVA, Falls (>75), firearms, battlefield explosions -Also: sports related (boxing), violence and suicidal behavior Complications: focal neurological deficits (MC CN I, IV, VII, VIII), hydrocephalus, post-traumatic seizures, vascular lesions, brain death, CSF fistula -Prevention: seatbelts/car seats, don’t drink and drive, helmets, fall precautions, firearm safety Concussion -Occipital, worse in the morning, pulsing/throbbing -CO toxicity, sleep apnea, anemia -H/a of sudden onset, vomiting, meningismus, AMS, rupture of berry aneurysm, sentinel h/as -Sudden onset, unilateral, severe, decreased vision -Fever, non-focal neurological sx, meningismus, NV -Pain on awakening, progressively worsens, worse with Valsalva, ataxia, increased ICP, [h/a, vomiting, papilledema], new onset seizures -Transient, shock-like facial pain -Elderly, severe unilateral scalp/temporal pain, PMR -Stabbing/aching, rhinorrhea, worse forward -N/V, eye pain, injection, increased IOP -Posterior-occipital pain, increased by activity, h/o trauma, spinal or muscle tenderness -Temporal headache, earache, crepitus -Overuse of analgesics - daily or near daily h/a -Masses/lesions stretching arteries -Benign h/a following cough, sneeze, Valsalva -5 abnormal states of consciousness: Stupor (unresponsive but arousable, sternal rub) Coma (unresponsive and unarousable – short duration) Persistent vegetative (unconscious, unaware, have sleep-wake cycles, reflex response) Locked-in syndrome (pt aware, alert, paralyzed) Brain death (lack of measurable brain function) -Mild TBI: Conscious/LOC for few mins, dazed feelings, h/a, confusion, dizziness, N/V, blurred vision, tinnitus, fatigue, change in sleep, mood changes, memory/concentration/attention change -Moderate to severe: persistent h/a, vomiting, seizures, unable to wake from sleep, pupil changes, slurred speech, ataxia -MC cognitive impairment: inability to form/store new memory -Brief LOC <30 min, transient confusion, -ESR (r/o temporal arteritis) -Tests for underlying condition (ABG, glucose) -Head CT (r/o intracranial masses, hemorrhage) -LP (intracranial infx) -Sinus imaging (r/o sinusitis) -MRI (r/o posterior fossa lesion) -CT without contrast, LP -CT with IV contrast -CT, LP with CSF analysis 1) CT, 2) MRI* -Clinical -Clinical, biopsy (giant cells, increased ESR) -Cervical spine XR, MRI for herniated disc -Neuro assessment with GCS score, brainstem exam (pupils, EOM, corneal/gag reflex) -CBC, BMP, PT, PTT, Type/crossmatch -Urine tox, blood alcohol -Skull xray -*CT w/o contrast -MRI -Angiography -Carbamazepine -Steroids (complications: blindness) -Amoxicillin -NSAIDs -Wean them off -Closed head injury: mild: observation, supportive – return to ER if: severe h/a, persistent N/V, seizures, confusion or unusual behavior, watery discharge from nose or ear -Moderate risk: persistent emesis, severe h/a, amnesia, LOC or intoxication: observe & discharge -High risk: intubate, send surgical lesion to OR, fluid resuscitation -Penetrating trauma: high-velocity missile (bullets): debridement, dural closure, skull reconstruction -Penetrating object: removal, angiogram, abx, tetanus vaccine, debridement, wound irrigation Complications: Second Impact -Electrophysiologic dysfunction of midbrain secondary to impact – no evidence of structural alteration, no fixed neurological deficits Skull Fractures -Can be linear (MC) or comminuted -Depressed skull fx: -Open skull fx: -Basilar skull fx: -Diastatic fx: Epidural Hematoma -Between skull and dura mater: laceration of middle meningeal artery rapid brain compression -Arterial bleed, enlarges rapidly Subdural Hematoma -Bt dura mater and brain – mov’t of brain relative of skull leads to rupture of bridging vessels – venous bleed Subarachnoid Hemorrhage -Intraparenchymal bleed: saccular aneurysms @ bifurcation of arteries and circle of Willis that rupture, AVM Diffuse Axonal Injury -Neuronal injury in the subcortical gray matter or the brainstem from severe rotation or deceleration Bacterial Meningitis Inflammation of the leptomeninges and underlying CSF - transmitted through hematogenous spread (resp tract MC), direct extension (nasopharynx), direct inoculate (trauma), neurosurgery -Increased permeability of BBB cerebral edema toxic mediators in CSF decreased perfusion -Risk: Head injury with skull fracture Viral (Aseptic) Meningitis -Transmission is hematogenous* or neural penetration (Herpes) -Mostly caused by enter viruses, coxsackievirus B in children <3 disorientation, dizziness, impaired consciousness, memory loss, irritability, problems with concentration/seizure on impact -GCS >13 -Post-concussive syndrome: h/a, N/V, memory loss, dizziness, blurred vision, emotional lability*, sleep disturbances* do not confuse with PTSD syndrome: Pt suffers another brain injury before first is resolved fatal -Comminuted fracture displaced inwardly -Tx surgically only if segment is depressed >5mm on CT -Laceration over skull fracture, involving ear/sinus -Linear fx @ skull base with CSF otorrhea, rhinorrhea, hemotypanum, battle sign, raccoon eyes -Linear fx that causes bones of skull to separate @ unfused sutures -Brief LOC lucid period rapid progression to unconsciousness -Ipsilateral dilated pupil from uncal herniation, contralateral hemiparesis -CT: lenticular biconvex mass -Burr hole -Risk: blunt head trauma, alcoholic, elderly brain atrophy -Acute or sub-acute, unconsciousness on impact increased ICP. Gradual decline in mental status and change in LOC, h/a, cortical dysfunction -CT: crescent shaped concave hematoma – less dense than epidural -Trephination (burr hole), emergent craniotomy if refractory -MCC rupture of aneurysm -Sudden, severe h/a without focal neurological sx, vomiting, retinal hemorrhage, meningeal irritation, nuchal rigidity, photophobia -Surgery, clip aneurysm, analgesia, stool softener, IV fluids, anti-HTN -Rarely causes death, 90% of pts remain in persistent vegetative state -Shearing: breakdown of overall communication among neurons in the brain -Severely depressed consciousness, neurological dysfunction or coma -Prodromal URI symptoms -**Headache, meningeal irritation (nuchal rigidity, Kernig sign, Brudzinski sign), high fever and chills, photophobia, vomiting -Papilledema, seizures, focal neurologic sx, AMS -N. meningitides: nonblanching petechiae and cutaneous hemorrhages -Infants: lethargy, change in level of alertness, poor feeding, vomiting, resp distress, apnea, cyanosis, bulging fontanelles -Constitutional symptoms then high grade fever -Severe headache, meningismus, photophobia -Occasional AMS, seizures -Viral syndromes: pharyngitis, zoster, viral exanthems -CT w/o contrast (do a LP if CT is negative and suspicion high – xanthochromia) -May have normal CT, show punctuate hemorrhages, ICP in reference range -CBC-D, electrolytes, glucose -BUN/Cr, LFTs -Blood, nasopharynx, resp, urine cultures -Head CT with contrast -*Lumbar puncture -Head CT with/without contrast -LP with CSF analysis -Cultures, EEG -Supportive: rest, hydration, antipyretics -Herpetic infx: IV acyclovir early -HIV meningoencephalitis: HAART -CMV infx: IV ganciclovir -Age <5, >60, immunosuppression, *crowding (dorms), splenectomy (See Chart on pg 5) -Administer abx/steroids within 30 mins of presentation - empiric therapy if LP cannot be performed -Manage fever and pain, elevate pain, hyperventilation +/- Dexamethasone -Prophylaxis: rifampin, cipro, ceftriaxone -Prevention: MCV4 vaccine Fungal Meningitis -Opportunistic infx in immunocompromised pts -Cryptococcus neoformans*, coccidioides immitis, candida albicans, histoplasma capsulatum, blastomyces Noninfectious Meningitis -Metastasis to the meninges, drugs (NSAIDs, abx, IV Igs), inflammatory conditions (sarcoidosis, SLE, etc) No associated organism Encephalitis -Viral infx inflammation of brain parenchyma with neuropsychological dysfunction -Transmission human-human or reactivation of HSV -Virus gains entry to CNS by hematogenous spread, traveling along neural and olfactory pathways -Inflam. diffusely affects gray matter -*Arboviruses - MCC - West Nile, *St Louis (urban areas around the Mississippi), *California virus (northern Midwest, east), EEE (deadliest), WEE, JE (MC internationally) -HSE - MC in neonates -VZE in immunocompromised Brain Abscess -Caused by intracranial inflammation with subsequent abscess formation -Transmission: contiguous spread *sinusitis, otitis media, dental infx, mastoiditis; hematogenous spread systemic infx (endocarditis, lung infx, skin infx, IVDA, HIV); trauma Multiple Sclerosis -Autoimmune idiopathic inflammatory demyelinating CNS disease -Destroys myelin sheath, spares axons, neuronal cell bodies -Autoantibodies to myelin basic protein in blood and CSF -Inflammation and demyelination with remyelination lesions evolve into plaques, axonal transections permanent disability -Selective for optic nerve, white matter, brain stem, basal ganglia Complications: coma, delirium, parapleglia, UTIs, blindness, complications from chronic disability Prognosis: normal life span, decreased quality of life -Culture is diagnostic TOC (India ink) -Detecting capsular Ag in CSF -Mild: fluconazole -Severe: amphotericin B -Viral prodrome: fever, h/a, N/V, lethargy, myalgia -Encephalopathy: *acute confusion or amnestic states, behavioral and personality changes, stiff neck, photophobia, lethargy, decreased LOC, seizure, ataxia, flaccid paralysis, cranial nerve deficits, meningismus -Herpetic skin lesions in neonates* -Viral serology (arbovirus) -CSF PCR -Head CT with and without contrast -MRI, EEG -Brain biopsy -Supportive: manage fever and pain, control straining, coughing -Elevate head, hyperventilation -If ICP: diuresis, dexamethasone -HSV meningoencephalitis and VZV encephalitis: *IV acyclovir -HIV pts: IV foscarnet -*S. aureus, *streptococci, *pseudomonas -Secondary to size and location of the abscess: -Cerebellar - nystagmus, ataxia, dysmetria; brainstem - facial weakness, dysphagia, hemiparesis; frontal - inattention, drowsiness, AMS, motor speech disorder, hemiparesis, grand mal seizures; temporal - ipsilateral aphasia, visual defects -[Fever, localized headache, focal neurological deficit] -Mental status changes, seizures, N/V, nuchal rigidity -*Sudden worsening h/a + meningismus = rupture -Moderate leukocytosis, increased ESR and CRP, blood cultures -CT-guided needle aspiration -LP nonspecific -*CT with contrast - “ring enhancing lesion” -MRI more sensitive -MC debilitating disease in young adults in US -F>M, Caucasians > other, north European descent >2 episodes of sx + > signs (clinical/ imaging) that reflect dz in noncontiguous white matter in CNS:: -*Sensory loss MC (transient) - decreased vibration, joint position -Motor dysfunction - plasticity, muscle cramping, weakness, paralysis, hyperreflexia, Babinski, UMN dysfunction, seizures, aphasia, dysphagia -Autonomic dysf. - bowel, bladder, sexual dysfunction, incontinence, constipation -Cerebellar sx - dysarthria, disequilibria, trunk/limb ataxia, tremor -Constitutional - fatigue MC (esp after hot shower/activity), weight loss, dizziness, joint pain -Mental status - difficulty concentration, memory, judgment, emotional lability, depression -Trigeminal neuralgia - transient shock -Lhermitte sign - flexion of neck = shock-like feeling in torso or extremities -CBC-D, glucose, UA, culture, electrolytes (r/o electrolyte disturbance) -Head CT to assess focal neurological or mental status changes -*MRI of head with gadolinium: appear as plaques with periventricular distribution, # of plaques not proportional to severity -MRI of spine with gadolinium for pts with acute transverse myelitis -CSF analysis - elevated protein, oligoclonal bands, normal glucose, increased MBP -Abscesses <2.5 cm = abx -Surgical excision/drainage + 6-8 weeks of abx is the mainstay of tx -Strep: PCN G, 3gen CPN -S. aureus: nafcillin, vanco -Pseudomonas: cefipime, ceftazidime -H flu, s. pneumo - chloramphenicol -Multiple abscesses or abscess in essential brain area: repeated aspirations with high dose abx instead of complete excision +/- Corticosteroids -Acute optic neuritis, general MS exacerbations: *IV methylprednisolone (Solu-Medrol) -Acute trans. myelitis, encephalitis exacerbations: IV dexamethasone -RR-MS: B-interferon, glatiramer acetate (synthetic MBP) -Natalizumab (Tysabri) - blocks attachment of immune cells to BB vessels - final line treatment -Progressive disease or relapse prevention: immunosuppressants -Constipation: stool softeners, bulk producing agents, laxative suppositories -Spasticity: baclofen, diazepam -Depression, lability: amitriptyline -Supportive: self-catheterization, skin care Categories: Relapsing-remitting: acute exacerbations (usually previous sx) with gradual remissions starts ages 20-40 Primary progressive: MC after age 40, gradual decline, accumulation w/o remission Secondary progressive: 50% RR-MS enter ~ 10 years Progressive relapsing: PP-MS with sudden episodes of new symptoms or worsened existing ones Idiopathic inflammatory demyelination syndromes -May be unrelated to MS, a presenting symptom or exacerbation Optic neuritis: Bilateral internuclear ophthalmoplegia: Acute transverse myelitis: Inflammation/demyelination of optic nerve - acute onset (unilateral visual blurring, flashes of light, central scotoma, decreased acuity & color perception, discomfort) - Uhthoff phenomenon (visual deterioration induced by heat) -MLF coordinates CN III, IV, VI, VIII - direction of eyes based on equilibrium Devic syndrome: Acute disseminated encephalitis: Amyotrophic Lateral Sclerosis -Degenerative neuromuscular dz affecting both UMN and LMN - only MOTOR neurons affected -Familial: genetically transmitted -Sporadic (90%): idiopathic, elevated levels of glutamate in serum and CSF nerve cell degeneration, grouped muscle atrophy Complications: pneumonia, decubitus ulcers, DVT/PE, UTI, sepsis -M>>F, Whites > other -Onset at age 40 - 60 DDX: -UMN lesions (brainstem lesions, stroke, demyelination) -LMN lesions (CN palsies, spinal cord trauma, tumor, radiculopathy, neuropathy) -Guillain-Barre -Peripheral nerve lesion (ALS lacks pain and sensory sx) Lesion in MLF leads to adduction deficit in each eye, nystagmus upon adduction Lesions in spinal cord - acute partial loss of motor, sensory, autonomic, reflex, sphincter function below level of lesion Acute transverse myelitis + bilateral optic neuritis Similar to MS: acute onset of motor, sensory, cerebella and CN defects with encephalopathy, AMS coma, death Combinations of: -Difficulty swallowing, facial paresis - drooling, slurred speech, dysarthria -Bilateral limb weakness + atrophy - early sx: clumsiness, twitching, fasiculations, cramping, weakness; wrist/foot drop, increased tone (UMN) -LMN - muscle fasciculation, esp tongue -Unexplained weight loss - cachexia -Pseudobulbar effect: pathological laughing/crying -Bulbar ALS: dysphagia, drooling, dysarthria -Affect resp muscles and vocal cords late ventilation, gastrostomy -Classic signs: asymmetric muscle weakness, increased tone, hyperreflexia, fasciculation, muscle atrophy -MRI of brain and spinal cord - r/o differentials -EMG: increased amplitude, long duration -Muscle biopsy: grouped atrophy -FVC: <50% predicted is indicator of advanced disease IV steroids, seizure prophylaxis, plasmapheresis for antibodies -Riluzole (rilutek) - blocks glutamate, prolongs need for tracheotomy -Baclofen (lioresal) - treats spasticity -Focus on respiratory sx, control of secretions: amitriptyline -Ventilatory support for resp failure -Sedation and pain control -Constipation: laxatives, stool softeners, dietary changes -PEG placement -Median survival 3 - 5 years after dx, hypoxia or cardiac arrythmias MCC death in pts not on ventilator; pulmonary infx MCC death in pts on ventilators Seizures -Abnormal, excessive excitation of cortical neurons (seizure focus) sudden change in electrical activity (motor, sensory, behavioral changes) with/without change in consciousness -Manifestation depends on location and extent of transmission: temporal lobe taste, smell, psychic phenomena; occipital - visual; parietal - sensory -Epilepsy: 2+ recurrent idiopathic seizures -10% likelihood of having at least 1 seizure in lifetime -3% chance dx of epilepsy -Epilepsy highest in ages <2 and >65 -Metabolic/electrolyte disturbances: hypo/hyperglycemia, Na & Ca disorders, uremia, thyroid storm, hyperthermia -Mass lesions: brain tumor, metastasis -Missing drugs: non-compliance anti-epileptics (MCC), alcohol/drug withdrawl -Misc.: eclampsia, HTN encephalopathy, genetics, environmental -Injury: prenatal/birth, hypoxia, head injury -Ischemia: CVA, TIA, ICP -Infx: sepsis, brain abscess, meningitis, encephalitis -Intoxication: cocaine, Li, lidocaine, metals -Associated s/s: fever, focal neurological findings, head trauma with papilledema, meningismus, needle tracks, h/a 4. Febrile seizures: generalized seizure occurring 3 mo - 5 years old -Lasts <15 min -Pt has fever w/o evidence of any other cause for seizure -Complex febrile seizures: multiple seizures < 24 hr, focal or prolonged seizure -First febrile seizure should receive fever workup: CBC, culture, UA, CXR, LP 1. Partial - seizure focus in one hemicrania: Simple: brief sensory, motor, autonomic or psychic change (paresthesias, muscle spasm, mood changes, hallucination) - no LOC Jacksonian seizures: involve primary motor cortex, temporary weakness afterward Complex: behavioral arest x 60-90 sec brief post-ictal confusion - automatisms - pt is unresponsive to verbal command, resistant to physical manipulation - mostly originate in temporal lobe (bizarre motor behaviors) precedent aura (odor/taste) which may be simple partial seizure - followed by h/a Secondarily generalized - begins with aura, evolves into complex partial seizure generalized tonic-clonic seizure 2. Generalized - affects both cerebral hemispheres, always results in LOC Absence (petite mal): brief episodes of impaired consciousness, sudden immobility and blank stare - onset in childhood - no convulsive activity/aura, few automatisms (repetitive blinking) - precipitated by hyperventilation, photic stimulation - EEG shows 2.5 Hz generalized spike and slow wave complexes Myoclonic - sudden, brief, repetitive, arrhythmic jerking movements <1 seconds - twitch/jerk localized to few muscle groups - EEG: fast polyspike-and-slow wave complexes Atonic - sudden loss of postural tone, pt drops to the ground (r/o stroke, vasovagal syncope) Tonic-clonic (grand mal) - sudden onset of bilateral, symmetric contraction for several seconds, pt falls, clonic rhythmic movements (perioral cyanosis) flaccid with prolonged postictal confusion - preceded by auras, impaired memory of event, urinary/bowel incontinence, posterior shoulder dislocation Todd’s paralysis 3. Status epilepticus - seizures > 30 min, repetitive generalized seizures w/o return to consciousness Autonomic phenomena (piloerection, mydriasis, prolonged apnea), metabolic changes (lactic acidosis, CO2 narcosis, hypekalemia, hypoglycemia), HTN, arrhythmias, increased secretions, airway obstruction/aspiration, acute tubular necrosis, focal ischemia in brain postictal: fever, tachycardia, mydriasis, decreased corneal reflex, positive Babinski -New onset seizure: CBC, electrolytes, glucose, LFTs, UA, drug screen, EEG, head CT, search for underlying cause -Chronic seizure disorder with pattern: glucose/ anticonvulsant levels -Anti-convulsant levels: inadequate medication MCC of recurrent seizures -EEG: negative EEG does not r/o seizure disorder often need repetitive EEG, may be normal between seizures - neuron focus shows as a spike - if abnormal electricity <1000 neurons, there will be no positive findings -Non-contrast head CT -MRI - sensitive for lowgrade tumors, vascular lesions, inflammation, CVA -Neuro consult -Single unprovked seizure: avoid precipitations, no anticonvulsants recommended -Risk of recurrence depends on 1) abnormal brain MRI, 2) abnormal EEG -Benzos for actively seizing pts, phenytoin or Phenobarbital 2nd line -Absence seizures: *ethosuximide -Myoclonic: valproic acid, aborigine, torpiramate -Tonic-clonic: valproic acid, carbamazepine, phenytoin -Partial: *carbamazepine, phenytoin, Phenobarbital -Ketogenic diet -Pregnancy: folic acid 1 mg/day - do not switch medication, use only 1 anticonvulsant - obtain frequent drug serum levels -Surgery: vagus nerve stimulation, partial/full resection of focus, disconnection procedure (corpus callostomy) -Trauma common in tonic-clonic seizures: ecchymosed, abrasions, tongue/limb lacerations -MC serious injury associated with epileptic seizures: burns -During seizure, don’t put anything in pt’s mouth, put something under their head, take off constricting clothing, do not restrain, roll to the side Bell’s Palsy -Interruption of CN VII -May be due to trauma, surgical intervention, tumor, stroke, infection of CN VII -MCC is idiopathic -Attacks pregnant women, people with diabetes, influenza, URI -Can be caused by HSV, Lyme disease, sarcoidosis -Unilateral, acute onset -Paralysis of muscles of facial expression: corner of mouth droops, crease and skin folds effaced (loss of wrinkles), forehead unfurrowed, eyelids do not close, drooling, heaviness/numbness in face, retroaurical pain, hypersensitivity to sound in affected ear, impairment of taste (dysguesia) -Edema DDX: acoustic neuronal (Schwannoma) - no resolution, worsening of sx + tinnitus, vertigo; stroke; intracranial mass -Steroids *Acyclovir + prednisone -Intraocular saline to prevent drying of eye -Analgesic for pain relief -Massage of weakened muscles -Splint to prevent drooping of lower part of face Neuropathic pain -Direct injury to nerves Mononeuropathy: injury or damage of isolated nerve - caused by trauma and local compressive factors -Diffuse polyneuropathies are symmetric, initially distal, complication of systemic disease Radiculopathy: irritation and compression of nerve root of the spinal cord numbness, tingling, paresthesias, weakness of corresponding dermatome -Mononeuritis Multiplex: motor and sensory, affects 2+ nerve distributions MC associated with DM and multiple nerve compression (RA) - initial asymmetric random distribution progressive course -Complex Regional Pain Syndrome - severe, burning neuropathic pain in at least one limb, increased at night precipitated by trauma - ass/with alloying, hyperalgesia, extremity edema, vascular ischemia, osteopenia -DM: diabetic neuropathy -Alcoholism: thiamine, cyanocbalamine deficiency, buildup of toxic metabolites -Hypothyroid, liver failure, renal insufficiency, drug induced, environmental (toxic), radiation exposure -Trauma, complex regional pain syndrome, infectious, neoplastic, sarcoidosis, RA, collagen vascular disease, porphyria, Guillain-Barre, neurofibromatosis, CharcotMarie-Tooth disease, unknown -Nerve entrapment (carpal tunnel), nerve compression (tumors, cysts, herniated disc), neuralgia (trigeminal, postherpetic) -Pain - shooting, radiating, unilateral and of distal extremities initially, esp pronounced at night, alloying/hyperesthesia -Associated with numbness, paresthesias, tingling, sensory deficits, weakness, paralysis, nerve palsies, muscle spasm and pain, dizziness/impotence (autonomic neuropathy), balance and coordination deficits -On PE: Orthostatis hypotension, cranial nerve deficits, peripheral nerve deficits (foot drop - inability to dorsiflex the foot), muscular atrophy, muscle tenderness, hyporeflexia, weakness, sensory deficits (vibratory, temp, pain), gait disturbances, skin findings (ulcers, gangrene, Raynaud’s phenom, café au lait), charcot’s joint -Autonomic: anhidrosis, pruritis, bladder atony (retention), impotence, uncreative pupils, postural hypotension, dizziness, syncope, heart block, **silent MI, gastric atony, diarrhea, constipation, fecal incontinence, impaired hypoglycemia awareness -CBC-D (infx/anemia) -BMP - electrolyte abn. -ESR, Crp -Rhematoid factor (ANA) -Serology (infx) -Serum protein electrophoresis (multiple myeloma) -Thyroid panel -Liver/hep. Panel -ALP -Vitamins (B1, B6, B12) -CSF -CT, MRI, x-ray -Cultures -UA - heavy metal tox -Nerve bx -NCV/EMG -Underlying disorder -Neuropathy management amitriptyline, nortriptyline, mexiletine, gabapentin, carbamazepine, phenytoin, aborigine, topical lidocaine, baclofen, lyrica -Analgesics - NSADIs, SSRIs, opioids -Muscle relaxants -Remove offending agent -Steroids -Cytotoxic agents -Plasmapheresis -Supportive (TENS, massage, hypnosis, meditation, acupuncture) -Autonomic neuropathy: clonidine, midodrine, fludrocortisone, bethanechol, compression stockings, symptomatic -Physical activity/therapy -Surgery Primary Brain Tumors -Ionizing radiation -Immunosuppression -Inherited: Neurofibromatosis (gene 17), Bilateral vestibular schwannomas (chromosome 22q) -H/o cancer -Sx depend on location: asymptomatic, systemic (weight loss, malaise, anorexia, fever), mental status changes (emotional lability, personality, intellectual decline, depersonalization, memory loss), new-onset seizures, headache (ipsilateral, early, waking pt from sleep, relieved with head elevation, worsened by coughing, bending), hallucinations, visual disturbances, hearing loss, vertigo, tinnitus, N/V, CN deficits, gait abnormal -PE: papilledema, CN deficits (nystagmus, EOM dysfunction) hydrocephalus (MC in ependymoma), contralat motor/sensory deficiencies, weakness, hypotonia, AMS, memory def., ataxia, UMN def. (hyperreflexia, spasticity, Babinski+, Romberg+, pronator drift+, atrophy, Hoffman reflex DDX: CVA, subdural hematoma, tuberculoma, brain abscess, toxoplasmosis, Bell’s Palsy -CBC-D, BMP, Skull XR, CT, *MRI, EEG, LP, PET< MRA, Bx -Corticosteroids (dexmethasone), -Osmotic diuretic: mannitol -Anticonvulsants -Surgical excision TOC -Ventricular shunting (conduit for CSF) -Radiation (gamma knife) -Chemo (tx underlying malignancy – intrathecal) -Palliative -Referrals -Meningioma: benign tumor derived -Common in adults, middle Complications: herniation, brain abscess, progressive focal/global motorsensory abnormalities -Surgery, external beam, particle radiation from arachoid, attaches to dura -Acoustic neuroma: Schawnn cells of CN8 and 5, as/with neurofibromatosis type 2 -Pituitary adenoma: as/with increased hormone secretion -Metastatic carcinoma -Craniopharyngioma: benign brain tumor – Rathke’s pouch -Germinoma: pineal, 3rd ventricle -Dermoid cyst: benign, midline supratentorial/cerebellopontine angle -Epidermoid tumor: benign cystic -Primary cerebral lymphoma: B-cell malignancy as/with EBV -Glioblastoma multiforme: Grade IV astrocytoma -Astrocytoma: located in cerebrum, cerebellum, brain stem, spinal cord -Ependymoma: derived from 4th ventricle epithelium -Medulloblastoma: post fossa, 4 vent. -Oligodendrocytoma Metastatic Tumors -Lung -Breast -Melanoma -Others: GU (Renal Cell Ca), osteosarcoma, head/neck, lymphoma (NHL) Ischemic Stroke Large Vessel Thrombotic Stroke: thrombi from atherosclerotic plaques at arterial bifurcations Small Vessel Stroke Lacunar Infarct: occlusion of small branches of large cerebral arteries (leave behind lacunae) Cardiogenic Embolic Stroke: thrombus from heart to brain - MCA Hemorrhagic Stroke -Rupture of vessel hemorrhage aged, F>M -More common than primary tumors, ages 35-70 -MC in 20s -MC adult primary intracranial neoplasm -Translabyrinthine surgery, radiosurgery for larger tumors -Progressive ipsilateral unilateral sensorineural hearing loss, tinnitus, vertigo, facial weakness/numbness -Bitemporal hemianopsia, hormone secreted (prolactin, FSH/LH, GH, ACTH, TSH) -May be 1st sign of systemic cancer or have no primary cancer site -Visual and endocrine disturbances -May be benign or aggressive causes DI -Entrapped skin tissue during closure of neural tube -Arise from embryonic epidermal tissue -Most clinically aggressive tumor, median survival 512 mo -Common adult tumor, follows protracted course -Transsphenoidal excisional surgery, appropriate medical treatment -Surgery, focal radiation -Surgery -CT/MRI: ring-enhancing lesions -Surgery (often not resectable) -In adults, found in lumbosacral spinal cord -Surgery, external beam radiation -Slow, benign course -Surgery, chemoradiotherapy -Surgery preferred -MC source of brain metastasis -Metastasis to brain or skull but not both -Most likely to metastasize -Palliative -Glucocorticoids, antiseizure meds, surgery, *whole brain irradiation, chemotherapy, gene/immunotherapy -Common in children <20 yrs -MC brain tumor in children -In children, primary malignant tumors 2nd MCC of cancer death (MCC leukemia) -MC type found in large vessels of brain -Rheumatic heart dz, Afib, MI, vent. aneurysm, endocarditis -Risks: HTN, age, brain tumor, AV malformation -Surgery -Glucocorticoids, high dose methotrexate/cytarabine, irradiation -MCA: MC – facial droop, arm weakness, hyporeflexia, contra. Hemiplegia/ hemiparesis to face & arm, homonymous hemianopsia of contralateral eye, confusion, global aphasia, apraxia; ACA: contra. hemiplegia to foot or leg, impaired gait, hemiparesis to toes, foot, leg, difficulty decision making, urinary incontinence, cognitive disorders; PCA: homonymous hemianopsia of contra. visual field, loss of central vision, memory deficits, anomic aphasia, alexia; basilar/vertebral: visual disturbances, dysphagia, N/V, ipsilateral Horner’s, ipsilateral loss of facial pain and temp sensation -Pure contralateral motor hemiplegia (face, arm, leg) OR pure sensory (transient numbness, sensory loss to face, arm, leg), ataxic hemiparesis: weakness of lower limb, babinksi +, dysarthria -Neuro deficit with cardiac condition -History/PE/Neuro -CT, MRI, perfusion scans, arteriography, MRI angiography -MRI -DDX: tumors, infx, neurosyphilis, drug use -CT, carotid Doppler and US, cardio work-up FOR ALL: -Anticoagulation with heparin, antiplatelet therapy, whole brain may be salvaged with TPA (penumbra) -PT, OT, ST, prevention of secondary complications (DVT) Compl.: reoccurrence, increased ICP, vasospasm, hydrocephalus, hypothalamic dysfnctn -Cerebral aneurysm: Berry aneurysm AVM: Congenitally abnormal arteries and veins – lack of capillaries = increased pressure in veins Locked-In Syndrome -Brain stem stroke – ventral part of pons damaged, no upper brain damage Uncal Transtentorial Herniation -Herniation often due to trauma to lateral side of head Central Transtentorial Herniation -Downward displacement of thalamic region – gradual compression of brainstem Tonsillar Herniation –cerebral hemispheres compress medulla through foramen magnum Infratentorial Herniation – can be upward (hydrocephalus/coma) or downward (cardiac arrest/death) Increased ICP -Normal ICP 0=15 mmHg, elevated ICP compromises cerebral vessel autoregulation diminished perfusion ischemia of cerebral tissue vasodilation further increased ICP -PCKD, coarctation, AVM, HTN, atherosclerosis -TBI, medication OD, damage to myelin sheath -Cognitively intact but quadriplegic -Able to sense pain and touch -Supratentorial lesions -Compression of CN3: Ipsilateral pupil enlargement, sluggish pupil response, neurolenic hyperventilation, contralateral hemiparesis (due to pyramidal tract compression), brainstem compression, HTN and bradycardia (Cushing’s) -Midpoint, non-reactive pupils, decorticate decerebrate, Cheyne-Stokes respiration, Babinski+, Cushing’s triad (HTN, bradycardia, irregular respirations) -Compress cardiovascular, resp centers cardiac arrest -Brainstem dysfunction (ataxia), CN palsies (absent corneal, gag reflex), limb weakness or sensory loss prior to nonreactive pupils, abnormal respirations -Earliest signs: headache, AMS, confusion, drowsiness, decreased LOC, Cushing’s reflex -Cushing’s triad, bilateral fixed dilated pupils Psychogenic Coma Brain Death -Cessation of all brain function Cerebral Palsy -Neurological disorders caused by *nonprogressive brain lesions involving motor or postural abnormalities noted in early development -Lesions restricted to brain only -Spastic CP: occurs at term – vascular injuries spastic hemiplegia; hypoperfusion spastic quadriplegia -Diskinetic CP: hypoperfusion to basal ganglia -Chronic h/a, N/V/dizziness, neurologic deficits Rupture leads to subarachnoid hemorrhage: severe and sudden generalized h/a which subsides after 1-2 weeks, HTN, collapse and LOC, vomiting, nuchal rigidity, photophobia, fever, coma, focal motor/sensory deficits, cranial nerve deficits -SAH, seizures*, throbbing severe h/a, hemiparesis, speech deficits, learning disorders -Age of onset: fetal/neonatal -Maternal and prenatal RFs: long menstrual cycle, previous pregnancy loss, maternal MR, thyroid disorder, seizure disorder -Pregnancy RF: polyhydramnios, tx of mother with thyroid meds or hormones, HTN, mercury exposure, congenital malformations, male sex, 3rd trimester bleeding, IUGR -Cushing’s reflex: HTN, bradycardia, widened pulse pressure -Cushing’s triad: HTN, bradycardia, irregular respirations Resistance to having eyelids opened, nystagmus on caloric testing, adverse head/eye mov’ts, failure of pts arm to fall on face when released -Pupillary response absent (dilanted), corneal/gag reflex absent, no facial or tongue mov’t, flaccid limbs -Spastic (MC): spasticity, hyperreflexia, clonus Babinski+ Spastic hemiplegia: one side of the body with UE spasticity > LE spas., normal IQ, one-sided UMN deficit, specific learning disabilities, seizures Spastic diplegia: involvement of bilateral LE > UE, normal IQ, UMN deficits, scissoring gait Spastic Quadriplegia: all four extremities, associated with mental retardation -Dyskinetic: extrapyramidal signs characterized by -CT, CSF – elevated opening pressure, xnathochromia; cerebral angiography -Cerebral arteriography within 24-72 hrs to localize bleed -Surgery, supportive (prevent increase in ICP), pt education, management of HTN -Cerebral angiography -Surgical, endovascular occlusion -Neuromuscular stimulation, supportive -CT w/o contrast -EEG, brain scan: no cerebral blood flow -Clinical -Coagulation profile (r/o cerebral infarction) -Screen for metabolic or genetic disorder: lactate/pyruvate, thyroid function, ammonia, serum quantitative amino acid & urine quantitative organic values, chromosome analysis -Cranial US -Hyperventilation, intubation, mannitol, narcotics (sedation), ventricular catheter for ICP, glucocorticoids -Reverse Trendelenburg position (not if hypotensive, spinal injury) – venous outflow improved, decompressive craniectomy – large section of skull removed, ventriculostomy -Screen for MR, visual and hearing impairments, speech and languae disorders, oromotor dysfunction -Balcofen and benzos for spasticity -Antiparkinsonism drugs, anticonvulsants (diazepam, valproic acid, barbiturates) Consults: -Physiatrist: phenol IM neurolysis, botox injx to reduce spasticity -Orthopedist: surgical management of -Perinatal RF: Prematurity, chorioamnionitis, nonvertex and face presentation, birth asphyxia -Postnatal RF: Infx, ICH, hypoxia-ischemia, kernicterus, persistent fetal circulation, low APGAR abnormal mov’ts, hypertonicity, early hypotonia with mov’t disorder @ 1-3 yrs, DTRs normal -Mixed: no specific predominant tonal quality -Hypotonic (rare): truncal and extremity hypotonia with hyperreflexia, primitive reflexes -CT of brain -MRI of brain* -EEG, EMG, NCV, histology -Infant presents with early hypotonia for first 6 months, followed by spasticity -No race predilection, M>F Muscular Dystrophy -X linked recessive disorders with progressive proximal muscle weakness caused by muscle fiber degeneration: mutation of xp21 locus (dystrophin) Duchenne Muscular Dystrophy -Severe absence of dystrophin (found in skeletal and cardiac muscle) – repeated cycles of necrosis in response to trauma -Most severe form -Progressive, symmetric weakness that affects proximal muscles, initially in lower limbs (pelvic girdle) Becker Muscular Dystrophy -Production of abnormal or less dystrophin Mytonic Dystrophy -Autosomal dominant – mutations in DM1 (more common) and DM2 Limb-Girdle Dystrophy -MC -Only males affected – manifests between ages 2-3 -Calf pseudohypertrophy (fatty, fibrous replacement of muscle) – false appearance of healthy muscle -Frequent falls, difficulty running, jumping, climbing stairs, rising from the floor -Toe walking, waddling gait, lordosis -Gower’s maneuver*: pt uses hands to get up from floor -Develop limb flexion contractures and scoliosis -Males affected -Ambulation preserved until age 15, many children remain ambulatory into adulthood -S/s begin during adolescence or young adulthood -Myotonia (delayed relaxation after muscle contraction), weakness and wasting of distal limb muscles (esp hands) and facial muscles (ptosis), cardiomyopathy -Onset: early childhood to adulthood -Weakness in proximal limbs (shoulder girdle), severe loss of function by age 20 -Begins age 7-20, normal life expectancy -Slow progression, *difficulty whistling and raising the arms -Infantile: facial, shoulder, hip girdle weakness, rapidly progressive: scapula winging on PE -Acute: Risks: emotional stress, caffeine, pain, change in sleep schedule -Chronic (3 nights/wk for 1 mo): depression, stress, pain, medical conditions, chronic fatigue syndrome -Presents as difficulty falling asleep, wakefulness during night, early morning awakening -Obstructive: intermittent obstruction of upper airway by the tongue asphyxia -Central: respiratory center in the brain -Presents as male 3-60 with h/o snoring and excessing daytime sleepiness, nocturnal gasping, -MC form of muscular dystrophy in whites and adults -Affects both M and F -2nd MC muscular dystrophy in US -M = F -Affect multiple genes Fascioscapulohumeral Dystrophy -Autosomal dominant disorder (D4Z4): weakness of facial muscles and shoulder girdle -3rd MCC of muscular dystrophy in US Insomnia -Loss of restorative sleep, despite opportunity -Difficulty falling asleep, staying asleep, waking up too early -More common in women, increased age, psych problems and comorbidities Sleep Apnea -Periods of apnea/breathing cessation during sleep -Cessation of airflow through nose and mouth for 10 sec or longer -Risk: males, increasing age and obesity, large neck girth -Suspicion with characteristic clinical findings, age @ onset, fhx -EMG: rapidly recruited, short duration, low amplitude motor potentials (weak, insufficient contractions) -Muscle bx: necrosis, marked variation -*Elevated CK levels -*Immunostaining analysis of dystrophin -*DNA mutation analysis (PCR, southern blot) hip dislocations, scoliosis, spastcty -Geneticist -Neurosurgeon: identify & tx hydrocephalus, tethered spinal cord, spasticity; rhizotomy, reconstructive surgery -Gastroenterologist, nutritionist -Pulmonologist -Multidisciplinary learning disability team -Supportive: moderate exercise, passive exercises (low intensity, nonweight bearing), ankle-foot orthoses, leg braces, weight control -Genetic counseling -Daily prednisone – protects muscle mass and function -Corrective surgery -Clinical, age @ onset, fhx -*DNA testing TOC -Ankle foot braces, drug therapy for myotonia (mexiletine) -Muscle histology, immunocytochemistry, Western blot, genetic test -Confirmed by DNA testing -Prevention of contractures: exercise, braces, surgery as needed -Sleep diary ~1-2 weeks -Polysomnography: electrooculogram, EMG, ECG, breathing mov’t, pulse Ox -R/O other disorders -Polysomnography: overnight sleep studies – measure ventilation, arterial O2, heart rate -Short term: Benzos (Flurazepam), Halcion or non-benzo hypnotics (ambient, sonata) – limit to < 10 days -Antihistamines: can lead to morning drowsiness -Sleep hygiene -Mild to moderate: weight loss, avoid aggravating factors, sleep in lateral position -Severe: Nasal CPAP (continuous positive airway pressure) – provides -Physical therapy, braces, albuterol: increases muscle mass and strength moderate obesity and large neck circumference, HTN, behavioral disturbance -Cardiorespiratory: increased L ventricular afterload, bradycardia, tachycardia, HTN -Muscle weakness w/o loss of consciousness (cataplexy), daytime sleep of 30 min or less, hallucinations, both visual and auditory, sleep paralysis Narcolepsy -Daytime sleep attacks – abrupt transition to REM sleep positive pressure preventing occlusion of airway -Uvulopalatopharyngoplasty -Hx, R/O other diagnoses (seizures), sleep studies -Stimulant meds: Methylphenidate (Ritalin), wake promoting therapeutics -REM sleep depression with antidepressants, adequate nocturnal sleep time, planned daytime naps Circadian Rhythm Disorders -Non-24 hr sleep-wake syndrome -Time zone change: Jet lag -Shift work sleep disorder -Change in sleep phase disorder Periodic Movement Disorder -Common in blind pts Restless Leg Syndrome -Centrally acting dopamine receptor antagonists reactivt sx -Common in middle age -Female predilection Parasomnias -Movements and behaviors not expected that occur during sleep or are exaggerated by sleep Myasthenia Gravis -Acquired autoimmune disorder with weakness of skeletal muscles (progressive through the day) and fatiguability on exertion -Autoantibodies to AChR @ NMJ of skeletal muscles or antibodies against muscle-specific kinase (MuSK) -Associated with other auto-immune disorders: Hashimoto’s, SLE, RA Lambert-Eaton Myasthenic Syndrome CLASSIFICATION: I: Ocular muscle weakness, weakness of eye closure, all other muscle strength normal II: Mild weakness affecting other than ocular muscles, ocular muscle weakness of any severity III: Moderate weakness affecting other than ocular muscles, ocular muscle weakness of any severity IV: Severe weakness affecting other than ocular muscles, ocular muscle weakness of any severity V: Intubation, with or w/o mechanical ventilation -Internal sleep/wake rhythm and external differ -Difficulty falling asleep/awakening, poor sleep habit -Episodes of repetitive mov’t of large toe with flexion of ankle, knee, hip during sleep – Stage I/II -Compulsion to move legs with or w/o paresthesias, worse @ rest, night, improves with activity -Motor restlessness: pacing, tossing/turning, rubbing their legs -Present at evening/night -May also have sleep disturbance, daytime fatigue, normal neuro, leg mov’ts during sleep -Sleep terror: abrupt, terrifying arousal from sleep; NREM stage III/IV; fear, sweating, tachycardia, confusion, screaming -Nightmares: occur during REM sleep -Teeth grinding, bed wetting -Sleepwalking – child ages 6-12, stage III/IV, NREM -Fluctuating weakness increased by exertion: pathognomic -Weakness increases during day, improves with rest -Sensory exam, DTR normal -MC initial sx: EOM weakness, ptosis, diplopia, blurred vision (mimics MS) – EOM weakness asymmetric -Facial muscle weakness: bilateral- mask like face -Bulbar muscle weakness: nasal voice, nasal regurgitation of foods and liquids, jaw hangs open, slurred speech, difficulty chewing/swallowing aspiration, *weakness of neck muscles: neck flexors -Limb muscle weakness: proximal≫distal, UE>LE -Respiratory muscle weakness (*myasthenic crisis): immediate intubation, weakness of intercostals muscles and diaphragm leads to resp failure -Progress from mild to severe dz from wks→ mos -Exacerbation with: Abx (AMG, FQ), BB, cardiac medications, anticholinergics, *premenstrual, pregnancy, post-partum -Proximal muscle weakness and hyporeflexia -Sx improve with repeated stimulation** -Artificial light prior to wakening -R/O iron deficiency, check ferritin -Dopaminergic agent: Sinemet, pergolide, bromocriptine -Benzodiazepenes -Reassurance, pt education -Eliminate secondary etiologies -Benzos (suppress stage III/IV) -TCAs -Anti-acetylcholine receptor antibody (most specific): false positive with thymoma, Lambert-Eaton, SCLC -Anti-MuSK antibody -Thyroid function test CXR -*Chest CT to identify thymoma -MRI of brain -Repetitive Nerve Stimulation – MC (rapid) -Single-fiber electromyography – most specific -**Pharmacological testing (edrophonium, Tensilon test)- marked improvement of sx -AChE inhibitors (neostigmine, pyridostigmine) -Thymectomy- first-line, leads to symptomatic relief and potential remission -Corticosteroids: for pts responding poorly to AChE inhibitors and have already undergone thymectomy -Azathioprine, cyclosporine, mycophenolate mofetil -Plasmapheresis or IV Ig to remove antibodies -Abnormality of Ach release @ NMJ: auto-antibodies to presynaptic Cachannels Dyskinesia -Involuntary, non-repetitive, occasionally stereotypical mov’ts affecting distal, proximal, axial musculature in varying combinations – Basal ganglia disorders Tremor -Rhythmic, alternating involuntary mov’t caused by repetitive muscle contraction and relaxation (oscillation) -Associated with SCLC -MC movement disorders -Associated w/age and neurological disease Chorea -Brief, rapid, jerky, purposeless, irregular involuntary mov’t of distal extremities and face, may merge into purposeful or semi-purposeful acts that mask involuntary motion → →→ Athetosis -Writhing mov’t, often with alternating postures of proximal limbs that blend into flowing stream of mov’t Dystonia -Sustained abnormal postures and muscle contractures, disruptions of ongoing mov’t resulting from alterations in muscle tone Myoclonus -Rapid, brief irregular contraction of a muscle or group of muscles Tic -Brief, rapid, simple or complex involuntary mov’ts that are stereotypical and repetitive LEADS TO∷ Tourette’s Syndrome -Multiple complex motor and vocal tics, coprolalia -Not mediated through normal motor pathways, truly involuntary and suspected to occur in response to external cue -Male predilection -Frequency and severity symptoms improve into adulthood -Associated with OCD, ADD -Difficulty performing voluntary movements -Extrapyramidal -Hyperkinetic: excessive amt of spontaneous motor activity, abnormal involuntary mov’t -Hypokinetic: purposeful motor activity absent (akinesia), or reduced/slowed (bradykinesia) -Essential tremor: Slow tremor that affects hand, head, voice – may be unilateral, minimal at rest, increases with age and movement, enhanced by anxiety, stress, fatigue, metabolic/drug changes -Postural tremor: maximal when body part is maintained against gravity, lessened by rest -Rest: Maximal @ rest, less prominent with activity -Intention (Kinetic) tremor: maximal during voluntary or purposeful mov’t toward a target: cerebellar damage -Chorea and athetosis often occur together (choreoathetosis) -Manifestations of basal ganglia disease: Wilson’s, Huntington’s* -Acute onset usually due to toxins (levodopa, dopoamine agonists), pregnancy (chorea gravidarum), hyperthyroidism and association with Rhematic fever (Sydenham’s chorea) -Essential tremor improves with alcohol, propranolol, benzos -Examples: cervical dystonia, spasmodic tortecolus -Frequently causes twisting, abnormal posture -Anticholinergics, botulinum toxin injection (weakens involuntary contractions) -May occur normally as a person falls asleep -Abnormal myoclonus: metabolic derangements (uremia), degenerative (Alzheimer’s), after severe closed head trauma or hypoxic-ischemic brain injury -Simple: (blinking, nose twitch, eye roll, shoulder shrug, jaw or head jerks), usually occur in childhood, often occur repetitively in one location -Complex: coordinated, sequential, resemble fragments of normal behavior: clapping, drumming fingers, picking scabs, kissing, touching, hitting self -Simple tics usually presenting symptom (MC facial tics, 2nd MC neck/shoulder tic) -Presenting vocal tics usually noises – utterance of words become pathognomic -Tics wax and wane, change character, most pts have 1-2 tics that endure -Premonitory feeling precede motor and vocal tics -Avoid social encounter: provoked by caffeine, -Correction of underlying metabolic abnormalities, Benzo’s anticonvulsants -Neuroleptics (haloperidol): block postsynaptic dopamine receptors, benzos hormones, excitement -Lessened by relaxation, may be suppressed voluntarily for a time -Reduction in tics when distracted -Most severe: self-injurious tics, coprolalia, copropraxia, animal sounds, echolalia, talking with different accents -High incidence of learning disabilities -Usually affects arms more than legs: severe form of chorea -Biballism: occasional bilateral mov’ts occur -Caused by lesion, usually infarct, in contralateral subthalamic nucleus Hemiballismus -Violent, continuous proximal limb flinging mov’ts confined to one side of the body Drug-Induced Mov’t Disorders Acute Dystonia Akathisia Parkinsonian-like symptoms Tardive Dyskinesia -MCC by drugs that block dopamine receptors (neuroleptics) -Days to weeks after neuroleptic -Occurs weeks to months after therapy -Follows >6 mo (often many years) of therapy *Neuroleptic Malignant Syndrome Huntington’s Disease -Incurable, adult-onset autosomal dominant inherited dz with: dementia, behavioral change, involuntary mov’ts -Gradual onset and slow progression leading to disability and death -Abnormality of chromosome 4 that causes toxic accumulation of protein huntingtin which accumulates in clumps within brain cells – death of GABA → increases dopamine -Symptoms don’t develop until after 30 years of age -By the time of diagnosis, the pt has usually passed on the gene -Mean age of death 51-57, duration of illness approx 20 years Parkinson’s Disease -Adult onset gradually progressive neurodegenerative disorder of the extrapyramidal system -Loss of dopaminergic neurons in substantia nigra, presence of Lewy bodies* (concentric, eosinophilic, cytoplasmic inclusions) -MC neurological disorders -Male predilection -Usually self-limiting (6-8 weeks) -Treat with dopamine depleting agents -Sustained muscle spasms of face, neck, trunk -Subjective sensation of motor restlessness -*Resting tremor, bradykinesia, rigidity, postural instability -Involuntary facial and tongue mov’t, rhythmic trunk mov’t, choreoathetoid mov’t of extremities -Muscular rigidity*, fever, tremor, AMS, autonomic instability – blocks dopamine receptors -Mov’t, cognitive and behavioral disorder: chorea MC -Athetosis → dystonia → Parkinsonian features → akinetic-rigid syndrome, spasticity, clonus -Dysarthria, dysphagia common – abnormal eye movements early in disease -DTRs variable -Dementia and psychiatric features earliest indicators: irritable, unkempt, loss of interest, slow cognition, impaired intellect, memory changes, decreased verbal fluency, attention deficit, executive function, abstract thought -Behavioral: depression, mania, increased rate of suicide, anxiety, OCD, sexual and sleep disorders, personality changes, psychosis, impulsiveness, hostility, agitation, hallucinations, paranoia -Unilateral pill-rolling resting tremor -Initial: fatigue, depression, constipation, sleep disturbance -Decreased dexterity, lack of coordination, gait disturbances (affected arm doesn’t swing, feet drag, festinating gait), stooped posture, poor balance, problems getting up from chair, neglect of swallowing, drooling, sexual dysfunction, seborrheic dermatitis, blepharitis, bradykinesia (small handwriting, low volume speech), lead pipe rigidity (cogwheel rigidity) -Withdraw drug, anticholinergics, anti histamines -Presymptomatic detection of dz ~ genetic linkage analysis -CT or MRI: cerebral atrophy, ventricular enlargement, atrophy of basal ganglia: measure bicaduate diameter* -History -CT/MRI for evaluation of dementia -Remove drug, anticholinergics (amantadine, diphenhydramine) -Gradual reduction of offending drug -Cessation of drug, ICU, hydration and cardiopulmonary function – resolves on its own over weeks, dantrolene to reduce muscle contractility -Genetic counseling, speech, physical and occupational therapy, psychiatric referral -Symptomatic: choreoathetosis: benzos (clonazepam, reserpine, tetrabenazine) -Depression: SSRIs, ECT -Bradykinesia and rigidity: levodopa, dopamine agonists -Antipsychotic medications and mood stabilizers -Neurodegenerative dz treated long term -L-Dopa + Carbidopa (Sinemet) DOC -Dopaminergic agonists: bromocriptine, pergolide, pramipexole -Anticholinergics: amantadine, trihexyphenidyl, benztropine -MAO-B inhibitor or COMT inhibitor -Neuro consult