15. Syndrome of idiopathic facial paralysis was first described more than a century ago by Sir Charles Bell, yet much controversy still surrounds its etiology and management.
16. Bell palsy is certainly the most common cause of facial paralysis worldwide. 1 out of 60 over lifetime
17. Patients often fear they have had a stroke and that their distorted facial appearance is permanent.
36. Bell palsy remains a clinical diagnosis. Imaging studies are not indicated in the ED. Differential Lyme Disease Ramsey Hunt Syndrome Melkersson-Rosenthal Syndrome Acoustic Neuromas
41. Close follow up with PMD and OpthamologyPrognosis 80% recover within a few weeks or months
42. Trigeminal Neuralgia AKA “Tic douloureux” [Wince Painful] Essentials of diagnosis Brief episodes of stabbing facial pain Pain is in the territory of the second and third division of the trigeminal nerve (V2 and V3) Pain exacerbated by touch No Sensory loss on examination
43. Trigeminal Neuralgia Pathophysiology – unknown Thought to be associated with compression of the trigeminal nerve root by a blood vessel, most often the superior cerebellar artery
44. Trigeminal Neuralgia Epidemiology: Women > men 3:2 Most common in 50s and older 14,000 new cases annually 140,000 cases in the United States RARE under 30 years of age If occurring under 30 – THINK about multiple sclerosis
45. Trigeminal Neuralgia Signs and symptoms Spontaneous or evoked with movement such as chewing, speaking, smiling Lancinating, electric-shock, severe stabbing type pain occurring over the distribution of the trigeminal nerve (V2, and V3 most commonly) Pain lasts seconds to minutes Pain is UNILATERAL in 97% of the cases
46. Trigeminal Neuralgia Signs and symptoms Pain can come in clusters, be episodic, or become chronic Pain can provoke muscle spasms along its course Pain DOES NOT typically wake patient up from sleep Physical exam Almost always NORMAL – diagnosis made from history
48. Trigeminal Neuralgia Labs Based on age, other history Consider CT/MRI of head, especially if suspicion for multiple sclerosisor tumor Consider CBC, varicella and herpes titers if considering infectious cause ESR if considering Giant Cell Arteritis Treatment Carbamazepine (Tegretol) = Drug of Choice 100 mg PO bid on day 1; increase by up to 200 mg/d using 100 mg increments q12h prn; not to exceed 1200 mg/d Usual dose is 400-800 mg/day
49. Trigeminal Neuralgia Treatment with carbamazepine Do not withdraw abruptly Need to monitor CBC for aplastic anemia Avoid UV light while using this medication Patients should also avoid triggers whenever possible Other medications Phenytoin (second choice) Baclofen +/- carbamazepine or phenytoin Clonazepam (Klonopin) Gabapentin (Neurontin) Amitriptyline (Elavil)
50. Trigeminal Neuralgia Other Treatment Modalities: Radiofrequency Thermal Rhizotomy Pros: Short Term Relief > 95% Cons: Recurs in 1/3 patients, dysethesias, weakness Gamma Knife Radiosurgery Pros: Lower risk of complications, longer lasting Cons: Relief ~ 2/3 patients Microvascular Decompression Pros: Low rate of pain recurrentce Cons: Suboccipital Craniotomy, > 70% efficacy
51. Trigeminal Neuralgia Prognosis Spontaneous remissions may occur for several months or longer Progression of the disorder Episodes of pain become more frequent Remissions become shorter and less common A dull ache may persist between the episodes of stabbing pain
52. Postherpetic Neuralgia Infection from Varicella-Zoster Virus About 15-20% of patients who develop shingles will suffer from postherpetic neuralgia Who gets it? The elderly Immunocompromised patients Severe pain with outbreak of shingles correlates with postherpetic symptoms
53. Postherpetic Neuralgia Diagnosis is made by history History of shingles Constant burning or stinging pain, in area where patient had the rash of shingles Treating the patient with antiviral agents during the shingles attack can help to lessen and in some cases prevent postherpetic neuralgia (no benefit from steroids) Work-up -- none usually needed
57. Parkinsonism Parkinson’s disease (Most Common) Multiple system atrophy Dementia with Lewybodies Progressive supranuclearpalsy Corticobasal degeneration Prion diseases Amyotrophic-parkinson-dementia complex of Guam Pallidal degeneration Hemiatrophyhemiparkinsonism
58. Parkinson’s Disease Essentials of diagnosis Any combination of tremor, rigidity, bradykinesia, progressive postural instability Seborrhea of face and scalp quite common Possible mild intellectual deterioration Epidemiology All ethnicities are equal Onset between 45-60 years of age Associated with positive family hx in >25% cases Men > women
59. Parkinson’s Disease Pathophysiology Slow degeneration of substantia nigra in midbrain Dopaminergic neurons degenerate Affects extrapyramidal systems System regulates movement initiation and control Diagnosis Bradykinesia Smaller handwriting Mask-like stare Infrequent blink Slowed walking and dressing Soft voice trails off
60. Parkinson’s Disease Diagnosis Impaired gait and mobility Change in stride Short, shuffling steps Postural instability Imbalance while walking or standing Frequent falls Stooping forward to maintain center of gravity
61. Parkinson’s Disease Diagnosis Resting tremor Hands and feet considerably affected Also affects head, face, lips, tongue, jaw and neck Presenting symptom in 50-75% of Parkinson's patients Regular rhythm (4-6 beats/sec) Tremor absent in up to 20% of Parkinson's disease Rigidity Affects breathing, eating, swallowing, and speech Cogwheel rigidity or lead-pipe rigidity
62. Parkinson’s Disease Diagnosis Secondary affects Akathisia Cognitive impairment Depression Fatigue Freezing of movement (motor blocks) Impotence Increased salivation Orthostatic hypotension Paroxysmal drenching sweats Seborrheic dermatitis Urinary frequency
63. Parkinson’s Disease Differential Diagnosis Lewy body dementia – resting tremor often absent Drug induced Parkinsonism Dopamine blocking drugs (e.g. Reglan) Toxin-induced Parkinsonism Manganese poisoning Wilson's Disease Structural lesions Normal pressure hydrocephalus CNS infection Other tremor Rest tremor Essential tremor
64. Parkinson’s Disease Diagnostic studies MRI of head indicated if atypical presentation Management -- general measures Group support Physical therapy or speech therapy Tools to assist with ADLs Hand rails Cutlery with large handles Nonslip mats, etc.
65. Parkinson’s Disease Treatment algorithm No functional deficit (normal ADLs and quality of life No medications needed, general measures only Cognitive changes and functional disability Conservative use of Sinemet No cognitive changes Consider selegiline (Eldepryl)
66. Parkinson’s Disease Treatment algorithm Mild functional disability with tremor predominant Consider amantadine Consider anticholinergics Trihexyphenidyl Hcl (Artane) Benztropine mesylate (Cogentin) Moderate to severe functional disability Sinemet SR Consider dopamine agonists
67. Parkinson’s Disease Medications Dopa decarboxylase inhibitor/dopamine precursors Carbidopa/Levodopa (Sinemet) Start at 25/100 PO tid Increase by one tablet every 1-2 days as needed Maximum : 8 tablets daily Carbidopa/Levodopa sustained release (Sinemet CR) Start at 50/200 PO bid Increase by one tablet every 3 days as needed Maximum : 8 tablets daily No benefit over immediate release in motor function
68. Parkinson’s Disease Medications Dopamine precursor (replacement) Levodopa (Dopar, Larodopa) Dopamine agonists Bromocriptine mesylate (Parlodel) Start at 1.25 mg PO bid Ropinirole (Requip) Start at 0.25 mg PO tid Pramipexole (Mirapex) Start at 0.125 mg PO tid
69. Parkinson’s Disease Monoamine oxidase Type B inhibitor Selegiline HCL (Eldepryl) 5 mg at breakfast and lunch Anticholinergic, release of dopamine Amantadine Decreases levodopa induced motor disorder Continue long-term Anticholinergic medications Preparations Trihexyphenidyl HCl (Artane) Benztropine mesylate (Cogentin) Anticholinergic side effects Adjunctive agents (vitamin supplementation) Co-enzyme Q10 360-1200 mg PO daily
70. Parkinson’s Disease Surgical treatment Thalamotomy Pallidotomy Surgery should be confined to one side of the brain Experimental surgery – implantation of fetal substantia nigra tissue in the caudate nucleus Brain stimulation Gaining popularity Causes minimal or no damage to the brain
71. Benign Essential Tremor Essentials of Diagnosis Postural tremor of hands, head, or voice Positive Family History (common) May improve temporarily with ETOH NO OTHER ABNORMALITIES other than tremor Etiology We don’t know We do know it is often inherited in autosomal dominant manner
72. Benign Essential Tremor Signs and Symptoms Tremor involves mainly hands and head Tremor seldom affects lower extremities No other signs and symptoms should be present ETOH ingestions provides remarkable relief of symptoms but is short lived (we don’t know why this works)
73. Benign Essential Tremor Treatment Usually not necessary Propranolol 60mg-240mg daily Usually need to continue for life Primidone can be used as second line Other agents Alprazolam, clozapine, topiramate, mirtazapine, etc. If Rx doesn’t work then surgical options available involving Thalmus (stimulation vs resection)
74. Huntington Disease Essentials of Diagnosis Grandual onset and progression of chorea and dementia or behavioral changes Family history of disorder Responsible gene on Chromosome 4 All Ethnicities Usually onset between 30-50 years of age Disease is progressive and usually fatal within 15-20 years
75. Huntington Disease Dyskinesias initially fidgetiness or restlessness but eventually leads to Chorea & Dystonic Posturing VIDEO OF CHOREA
76. Huntington Disease Differential Diagnosis CVA SLE Paraneoplastic Syndromes HIV Infection Reactions to Medications Sydenham Chorea (post group A strep) Dementia
77. Huntington Disease Imaging CT Scan or MRI demonstrates cerebral atrophy of the cuadate nucleus and Establishes the Diagnosis Treatment No Cure Symptomatic Treatment only Tetrabenazine Reserpine Haloperidol Amantadine Clozapine Genetic Counseling of Children Genetic Testing offers definitive diagnosis
78. Multiple Sclerosis Essentials of diagnosis Episodic neurologic symptoms Age usually < 55 years at onset Not explained by single pathologic lesion Multiple foci best visualized by MRI Pathophysiology Focal regions of demyelination of white matter Particularly periventricular and subpial white matter Also seen in the optic nerves
79. Multiple Sclerosis Risk Factors White > Black Female > Male (2:1) High socioeconomic status Northern latitudes Environmental factors (toxins, viruses) HLA histocompatible antigens
83. Multiple Sclerosis Signs Dysarthria Decreased pain, vibration and position sense Decreased coordination and balance Ataxia Difficult tandem walking Eye exam Visual field defects Decreased visual acuity Optic nerve pallor (optic neuritis) Nystagmus (most commonly horizontal) Bilateral internuclear ophthalmoplegia Nystagmus of abducting eye on lateral gaze Other eye with slow adduction
84. Multiple Sclerosis Signs Reflexes Deep tendon reflexes hyperactive Spasticity Abdominal reflexes lost Ankle clonus present Babinski reflex with up-going toes Charcot's triad Intention tremor Nystagmus Scanning speech Hot bath test Hot bath exacerbates visual signs
85. Multiple Sclerosis Diagnostic criteria Objective findings on exam consistent with history Long white matter tracts predominately involved Pyramidal Cerebellar Medial longitudinal fasciculus (MLF) Optic Nerve Posterior columns Two or more CNS areas involved Timing Two separate episodes of symptom clusters involving different CNS areas Or progression over at least 6 months No other explanation for CNS symptoms
87. Multiple Sclerosis Diagnostics MRI of head (most useful) Abnormal scan in >90% of Multiple Sclerosis patients Findings Plaque formation (myelin sheath loss) Spotty and irregular demyelination Distribution Involves brainstem, cerebellum, corpus callosum Other localized distribution Around ventricles Around gray-white junction Gadolinium enhancing if active inflammation
88. Multiple Sclerosis Diagnostics Head CT (not as helpful as MRI) Findings Ventricular enlargement Low density periventricular abnormalities Focal enhancement Evoked Potentials Visual, auditory, somatosensory, and motor Visually evoked potentials are most useful One or more evoked potential abnormal in 80-90% of MS
89. Multiple Sclerosis Labs Cerebrospinal Fluid Mild lymphocytosis CSF IgG Increased (not specific for MS) Oligoclonal banding of CSF IgG by electrophoresis Oligoclonal bands >1 in 75-90% of MS patients Serum titers predictive of Multiple Sclerosis Anti-Myelin oligodendrocyte glycoprotein (anti-MOG) Anti-Myelin basic protein (anti-MBP)
90. Multiple Sclerosis Management: acute episode or relapse Evaluate for provocative event Acute sinusitis Acute bronchitis Urinary tract infection Methylprednisolone (Solumedrol) 1000 mg qd for 3 days Prednisone After first 3 days methylprednisolone Prednisone 1 mg/kg/day PO for 14 -21days
91. Multiple Sclerosis Management: new medications to slow MS progression Interferon beta-1b (Betaseron) 0.25 mg SC q other day Modestly protects against exacerbation for 1 year Interferon beta-1a Avonex - 30 mcg IM once weekly Rebif - 22 to 44 mcg SC three times/week
92. Multiple Sclerosis Management: new medications to slow MS progression Natalizumab IV once monthly Blocks CNS entry of immune response to nerve cells Reduces relapse rate by >60% Very expensive: $2000/month Risk of hypersensitivity, infection, depression Immunoglobulin IV Delays recurrent events Statins (currently being investigated) Immunomodulatory effects
94. Myasthenia Gravis Essentials of diagnosis Fluctuating weakness of commonly used voluntary muscles Diplopia, ptosis, and difficulty swallowing Weakness increases with activity of affected muscles Short-acting anticholinesterases transiently improve the weakness Pathophysiology Neuromuscular autoimmune disease Associated with RA and Lupus Antibodies form to nicotinic acetylcholine receptors Results in progressive weakness and fatigability Sometimes associated with Thymic tumor or Thyrotoxicosis
95. Myasthenia Gravis Symptoms Muscle weakness provoked by exertion Proximal, asymmetric limb muscle weakness (85%) Respiratory muscle weakness Cranial muscle weakness Ptosis Diplopia Facial muscle weakness Slurred speech Dysphagia Signs Ocular Palsies (asymmetric) Normal Pupillary responses Proximal Muscle weakness that improves with brief rest Normal sensation Deep tendon reflexes normal Life threatening respiratory failure (Myasthenic Crisis)
98. Myasthenia Gravis Labs Serum Acetylcholine Receptor Antibodies (80-90%) If negative check Muscle-Specific Tyrosine Kinase (MuSK) antibodies Electromyogram (EMG) Decremental response to repetitive nerve stimulation CXR or CT neck or MRI neck Thymoma evaluation Thyroid Function Test Hyperthyroidism (3-8%) Rheumatoid Factor (RF) Antinuclear Antibody (ANA)
99. Myasthenia Gravis Management: Medication Anticholinesterase (cholinergic) Neostigmine, Pyridostigmine, or Both Immunosuppressive therapy Prednisone (poor response to cholinergic & s/p Thymectomy) Start at 20 mg qd, increasing to 60 mg Continue for 3 months OR until clinical improvement stops or declines Taper gradually to every other day
100. Myasthenia Gravis Management: Medication Azathioprine (Imuran) 2 mg/kg/day Efficacy Effective when given with prednisone Effect not seen for 6 months or more Monitoring Complete blood count (CBC) Liver function tests (LFT) Plasmapheresis (plasma exchange) and IVIG Indicated for emergent worsening/crisis Response rate: 70% AVOID AMINOGLYCOSIDES
101. Myasthenia Gravis Management: Thymectomy Indications Age <60 years Inadequately controlled on Mestinon Thymoma discovered Effect Clinical improvement after thymectomy in 80% Benefits may not be seen for 6 months Transcervical thymectomy may be preferred
102. Amyotrophic lateral sclerosis (ALS) A= without Myo= Muscle Trophic= Nourishment Lateral= side of the spinal cord Sclerosis= Hardening or scaring
103. ALS Also known as Lou Gehrig’s disease Degeneration of UMN and LMN Accuracy of clinical diagnosis ~ 95%
105. Epidemiology Worldwide roughly the same prevalence 50 X lO-6 No identified consistent risk factors related to occupation, trauma, diet, or socioeconomic status Generally begins in 30-60s 5% of cases are familial in an autosomal dominant pattern 20% of familial cases map to ch. 21; mutations in the gene for superoxide dismutase (SOD)
106. Clinical Manifestations Weakness : legs, hands, proximal arms, oropharynx Fasciculation Often hands are affected first, usually asymmetrically
108. Clinical Manifestations Footdrop Muscle cramps (hypersensitivity of denervated muscle) Weight loss Respiration is usually affected late
109. Clinical Manifestations Sensation is not clinically affected Bladder function is spared Combination of overactive reflexes with Hoffmann signs in arms with weak, wasted, and fasciculating muscles is virtually pathognomonic of ALS
110. Clinical Manifestations Course is relentless and progressive without remissions, relapses, or even stable plateaus Death from respiratory failure, aspiration pneumonitis, or pulmonary embolism Mean duration of symptoms is about 4 years (27-43 months) ; 20% live > 5 years
111. Amyotrophic Lateral Sclerosis Diagnosis made by EMG & Biopsy Muscle fibrillation on mechanical stimulation Increased duration and amplitude of action potentials Muscle biopsy demonstrates histological changes of denervation
112. Rx No effective drug therapy Riluzole (Rilutek) Glutamate inhibitor Prolongs life by 3 to 6 months No visible effect on function or quality of life Symptomatic (sialorrhea, dysphagia, tracheostomy) Emotional support Immunosuppressive therapy Only for lymphoproliferatlve disease, monoclonal gammopathy, conduction block or high titers of antibodies to GM, or MAG
113. Famous people with ALS Steven Hawking: Smartest man alive Proved Einstein's Theory of Relativity He currently uses an electric wheelchair to get around A computerized voice synthesizer operated by facial muscles in order to speak
114. Acute Idiopathic Polyneuropathy AKA “Guillain-Barre Syndrome” Essentials of Diagnosis Acute or subacute progressive polyradiculoneuropathy Weakness is more severe than sensory disturbances Acute dysautonomia may be life-threatening Triggered by Infection (esp. Campylobacter jejuni enteritis) Innoculations Surgical Procedures
115. Acute Idiopathic Polyneuropathy Two-thirds of patients develop the neurologic symptoms 2-4 weeks after what appears to be a benign respiratory or gastrointestinal infection The initial symptoms are fine paresthesias in the toes and fingertips, followed by lower extremity weakness that may ascend over hours to days to involve the arms, cranial nerves, and in severe cases the muscles of respiration
116. Acute Idiopathic Polyneuropathy Early in the course, patients frequently complain of aching or sciatica-like lower back or leg pain At some point during their illness, up to 25 percent of patients require mechanical ventilation More than 90% of patients reach the nadir of their function within two to four weeks, with return of function occurring slowly over weeks to months
117. Acute Idiopathic Polyneuropathy Symmetric limb weakness with diminished or absent reflexes Minimal loss of sensation despite paresthesias Signs of autonomic dysfunction are present in 50 percent of patients, including Cardiac dysrhythmias (asystole, bradycardia, sinus tachycardia, and atrial/ventricular tachyarrhythmias) Orthostatic hypotension Transient or persistent hypertension Paralytic ileus Bladder dysfunction Abnormal sweating
118. Acute Idiopathic Polyneuropathy Electrophysiologic studies are the most specific and sensitive tests for diagnosis of the disease They demonstrate a variety of abnormalities indicating evolving multifocal demyelination Slowed nerve conduction velocities Partial motor conduction block Abnormal temporal dispersion Prolonged distal latencies A normal study after several days of symptoms, makes the diagnosis of Guillain-Barré syndrome unlikely
119. Acute Idiopathic Polyneuropathy After the first week of symptoms, analysis of the cerebrospinal fluid (CSF) typically reveals normal pressures few cells (typically mononuclear) an elevated protein conc. (greater than 50 mg/dL) Early in the course (less than one week), protein levels may not yet be elevated, but only rarely do they remain persistently normal If CSF pleocytosis is noted, other diseases associated with Guillain-Barré syndrome eg, HIV infection, Lyme disease, malignancy, and sarcoidosis should be considered
121. Acute Idiopathic Polyneuropathy Plasma exchange is recommended for patients who Are unable to walk unaided Demonstrate worsening vital capacities Require mechanical ventilation Have significant bulbar weakness As a result of the cost, risk, and discomfort to the patient, plasma exchange is generally not used for ambulatory patients with mild disease or for patients whose symptoms are no longer progressing after three weeks
122. Gilles de la Tourette Syndrome Essentials of Diagnosis Multiple motor and phonic tics Symptoms begin before age 21 years Tics occur frequently for at least 1 year Tics vary in number, frequency, and nature over time Motor tics are the initial manifestation (80%) Most commonly involve the face Phonic tics are the intial manifestation (20%)
123. Gilles de la Tourette Syndrome Phonic tics commonly consist of: Grunts, barks, hiss, throat clearing, cough Verbal utterances of obscene speech Symptoms typically noted age 2-15 Chronic disorder with relapses and remissions Commonly associated with OCD Often misdiagnosed as psychiatric disorder
124. Gilles de la Tourette Syndrome Physical Examination Usually no other abnormalities Differential Need to exclude Wilson Disease Laboratory Not necessary given clinical diagnosis Treatment Haloperidol Clonazepam Clonidine Pimozide if unable to tolerate haoperidol
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