13. Neurological Disorders
Terms in this set (92)
Antibodies against ACh Receptors bind and prevent ACh binding (preventing muscle contraction)
Pathophysiology of Myasthenia Gravis:
80% involvement of muscles of facial expression
Cogan Lid Twitch
Clinical signs/sx of Myasthenia Gravis:
Test for improvement of ptosis:
Ice pack (2 min), 30 min nap, Edrophonium
Test for worsening of ptosis: sustained upgaze x1 min
Test for EOM function: hold eyes in extreme lateral gaze, eyes drift toward primary position
Clinical testing for Myasthenia Gravis:
Acute Idiopathic Polyneuritis
Guillain-Barre Syndrome is also called:
Immune system attacks Schwann cell membranes (peripheral NS), causing acute
Pathophysiology of Guillain-Barre Syndrome:
Idiopathic (not hereditary or contagious), but 50% follow onset of viral or bacterial infection or minor surgery (epidural)
Etiology of Guillain-Barre Syndrome:
Symmetric limb weakness evolving over days-weeks,
to involve head and neck last
Paresthesia & pain, beginning in toes & fingertips
Cardiovascular signs (tachy or bradycardia), urinary retention issues
Systemic signs/sx of Guillain-Barre Syndrome:
Cranial nerve palsies- VI and VII most common
Ocular signs/sx of Guillain-Barre Syndrome:
Defective reabsorption of CSF due to high protein concentration
Although papilledema is a very rare finding in Guillain-Barre Syndrome, what causes it?
Supportive- respiratory assistance, physical therapy
Treatment options for Guillain-Barre Syndrome:
Most recovery- weeks to years, 75% complete
25% have permanent steppage gait
Prognosis for Guillain-Barre Syndrome:
Miller-Fisher Syndrome is a rare variant of ________________________________________.
neuropathy begins with cranial nerve deficits
Ataxia, ophthalmoplegia, facial diplegia
Areflexia, loss of deep tendon reflexes
Clinical signs/sx of Miller-Fisher Syndrome:
Generally complete recovery over weeks-months
Prognosis for Miller-Fisher Syndrome:
Thiamine (B1) deficiency results in demyelination and axonal destruction in longest & largest nerves
Pathophysiology of nutritional/alcoholic polyneuropathy:
Distal extremity signs- symmetric weakness, numbness, tingling, aching, cramping
Optic neuropathy and ophthalmoplegia
Cecocentral scotoma on VF
Clinical signs/sx of nutritional/alcoholic polyneuropathy:
High-dose IM injections of thiamine and magnesium
Treatment for nutritional/alcoholic polyneuropathy:
The most common movement disorder is:
Tremor is during voluntary activity, increases at extension of limbs
Posture, gait, balance, coordination all normal
Can affect voice control
Clinical signs/sx of Essential Tremor:
Deep brain stimulation
Treatment for Essential Tremor:
Neuronal death leading to lack of dopamine in brain (substantia nigra, corpus striatum, & basal ganglia)
Pathophysiology of Parkinson's Disease:
Abnormal aggregates of protein (eosinophilic inclusion bodies) within nerve cells
What are Lewy bodies?
Average age of onset for Parkinson's is ____ years old.
Presence of Lewy bodies
Gait abnormalities (no arm swing, stooped posture, shuffle)
RESTING tremor, begins unilaterally at distal limbs
Loss of balance
Clinical (non-ocular) signs/sx of Parkinson's disease:
Glabellar tap reflex
Reduced saccades & pursuits
"Staring" look- mask-like, infrequent blinking
Ocular signs of Parkinson's disease:
Does Parkinson's disease usually follow a family history?
Neurodegenerative disease of unknown etiology
Pathophysiology of Progressive Supranuclear Palsy:
Disturbance of tone & posture + limitation of voluntary eye movements
"Hallmark signs" of Progressive Supranuclear Palsy:
Gait instability, falls
Dysarthia (motor speech disorder)
Vertical gaze palsy beginning with slowing of vertical saccades and subsequent loss of vertical gaze, then loss of horizontal gaze late
Vestibulo-ocular response is preserved, even in upgaze
Clinical signs/sx of Progressive Supranuclear Palsy:
In PSP, gait & balance dysfunction are the first sign and tremors are rare.
In Parkinson's, gait dysfunction is a late sign, pt always has a tremor
How do you Ddx Progressive Supranuclear Palsy from Parkinson's disease?
Which type of tremor is seen in Wilson's disease?
Inheritance pattern of Wilson's disease:
Autosomal recessive disorder causing defective copper metabolism (deficiency of ceruloplasmin), causing copper accumulation in liver and brain.
Pathophysiology of Wilson's disease:
Increased urinary copper excretion
Presence of Kayser-Fleischer ring
2 most reliable diagnostic findings of Wilson's disease:
Avg age of onset for Wilson's disease liver symptoms is _____ y.o and neurological sx at ______ y.o.
Increased bleeding tendency
Liver-related signs/sx of Wilson's disease:
Behavioral changes, depression, anxiety
Neurological signs/sx of Wilson's disease:
Scleral icterus (yellowing)
Ocular signs of Wilson's disease:
A Kayser-Fleischer ring is deposition of copper in which layer of the Cornea?
A sunflower cataract from Wilson's disease is in which part of the lens?
Refer to PCP to r/o hepatitis, cirrhosis, pancreatic disease
If a patient has Scleral icterus without a Kayser-Fleischer ring, what is the appropriate management strategy?
Refer to neurologist and/or PCP to r/o Wilson's disease
If a patient has a Kayser-Fleischer ring and/or a sunflower cataract, what is the appropriate management strategy?
D-penicillamine (copper-chelating agent)
Zinc acetate (maintain stable copper levels)
Lifetime tx with nearly complete recovery if tx is early
Treatment of Wilson's disease:
Inheritance pattern of Fabry disease:
Deficiency of alpha-galactosidase A enzyme- causes defective lysosomal storage and affects lipid metabolism.
Pathophysiology of Fabry disease:
Onset childhood to adolescence
By 3-5th decade, life-threatening renal, cardiac, and CV complications
Age of onset and clinical course for Fabry disease:
Corneal Verticillata (vortex keratopathy)- 90%
Spoke-like deposits on posterior lens
Conj vessel tortuosity
Ocular signs of Fabry disease:
Acroparesthesia (painful glove/stocking burning of hands/feet)
Angiokeratoma (small red/purple or blue/black spots on skin)
Impaired sweating, GI problems
Heart attacks, renal failure, strokes
Clinical systemic signs/sx of Fabry disease:
Inheritance pattern of Cystinosis:
Lysosomal storage disorder causing accumulation of cysteine in kidneys, eyes, brain, muscles, & pancreas
Pathophysiology of Cystinosis:
The _______________ form of Cystinosis is benign and ocular only.
Excess thirst and urination
Hallmark symptom of Cystinosis:
The _________________ form of Cystinosis is also called Nephropathic Cystinosis, and is deadly by age 10.
Excessive thirst & urination
Cysteine crystal deposits in conjunctiva, cornea, retina, lens capsule, iris that cause photophobia, glare, decreased VA
Infants only- cysteine crystals in proximal tubule
Clinical signs/sx of Cystinosis:
Cysteamine (cysteine-depleting agent, delays/prevents renal failure)
Cystagon (oral cysteamine)
(topical- dissolves corneal crystals, but q1H dosing!!!!)
Treatment options for Cystinosis:
Congenital defect during embryological development with absence of septum pellucidum, leading to optic nerve hypoplasia
Pathophysiology of Septo-Optic Dysplasia:
Septo-Optic Dysplasia is also called:
Developmental & growth delays due to endocrine dysfunction
Hypoplastic ONH (unilateral or bilateral), "dirty" appearance
Clinical signs/sx of Septo-Optic Dysplasia:
Fetal alcohol syndrome
Gestational drug toxicity
Most common causes of Septo-Optic Dysplasia:
Inheritance pattern of Muscular Dystrophy:
Inherited mitochondrial muscle disorders with progressive muscle weakness and deformity--> over time, fat and connective tissue replace muscle fibers
Pathophysiology of Muscular Dystrophy:
Signs/sx of Muscular Dystrophy usually don't develop until after age _____.
Inability to relax muscles (face, neck, forearms first)
Muscle weakness & wasting with age
Progressive bilateral ptosis
Progressive external ophthalmoplegia
Progressive symmetrical EOM paralysis
Christmas tree cataract
Clinical signs/sx of Muscular Dystrophy
Presence of a Christmas tree cataract is a hallmark sign of:
________________________________ is a myotonic dystrophy affecting patients before age 20.
Bilateral ptosis & progressive external ophthalmoplegia before age 20
1st degree heart block
Clinical signs/sx of Kearns-Sayre syndrome:
Refer for cardiac evaluation (1st-degree heart block)
If you diagnose a patient with Kearns-Sayre syndrome, what should you specifically do for management?
Inheritance pattern of Oculopharyngeal Muscular Dystrophy:
Inherited defect in gene for myosin heavy chains causing ptosis and dysphagia
Pathophysiology of Oculopharyngeal Muscular Dystrophy:
Ptosis & dysphagia (hallmark)
Progressive external ophthalmoplegia
Late- weakness of facial & limb muscles
Clinical signs/sx of Oculopharyngeal Muscular Dystrophy:
Bukhara Jews in Israel
Oculopharyngeal Muscular Dystrophy is most common in patients who are part of which ethnic groups?
Treatment for Oculopharyngeal Muscular Dystrophy:
Acute Disseminated Encephalomyelitis (ADEM) occurs secondary to:
Acute Disseminated Encephalomyelitis (ADEM) occurs __________ days after viral symptoms.
Acute onset of demyelination following viral infection with HA, confusion, seizures, fever
Motor, sensory, cerebellar dysfunction & cranial nerve dysfunction
Clinical presentation of Acute Disseminated Encephalomyelitis (ADEM):
Spectrum of autoimmune diseases of the CNS resulting in demyelination
What is Transverse Myelitis?
Peak incidence of Transverse myelitis is ages ____________ and _______________.
Bacterial infections (lyme, syphilis, TB)
Post-viral (EBV, measles)
Etiologies/triggers for Transverse myelitis:
Weakness of legs & arms
Sensory alteration (increased pain sensation, numbness/tingling)
Pain (usually a primary sx)
Clinical signs/sx of Transverse myelitis:
Asymmetrical spinal cord dysfunction with MRI lesion involving <3 vertebral segments
Criteria for Partial Transverse myelitis:
Complete or near-complete clinical deficit below lesion with MRI lesion involving <3 vertebral segments
Criteria for Complete Transverse myelitis:
Complete or incomplete TM with MRI lesion involving 3 or more vertebral segments
Criteria for Longitudinally extensive Transverse myelitis:
Recurrence is rare (usually only happens if predisposing underlying illness present)
Recovery can be absent, partial, or complete
Could potentially progress to MS depending on type of TM
Prognosis for Transverse myelitis:
In Transverse myelitis, presence of _______________________________ doubles chance of recurrence.
If normal brain MRI- 10-33% chance of MS
If brain lesions on MRI- 80-90% chance of MS
Is Partial Transverse Myelitis likely to progress to MS?
No- if normal brain MRI, <2% risk of MS
Is Complete Transverse Myelitis likely to progress to MS?
Transverse myelitis + bilateral optic neuritis that doesn't get better
What is Neuromyelitis Optica?
Neuromyelitis Optica is also called:
Japanese, Hispanic, and AA descent
Risk factors for Neuromyelitis Optica:
Worse outcome than MS
Half are blind within 5 years of loss of motor function
Prognosis of Neuromyelitis Optica:
Is Neuromyelitis Optica treatable with MS drugs?
Both feature high levels of NMO IgG antibody
How are Neuromyelitis Optica and Longitudinally Extensive Transverse Myelitis similar?
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