Other Neuro topics - Waldron Flashcards
what are tics
repetitive, stereotyped, involuntary movements and vocalizations
what is a simple tic
sudden, brief, repetitive movements involving limited number of muscle groups
motor - blinking, eye movements, facial grimace, heads/shoulder jerking
Vocal- throat clearning, grunting, barking, sniffing/snorting
what is a complex tic
distinct, coordinated patterns of movements involving several muscle groups, may appear purposeful
what is premonitory urge
urge/sensation in muscle prior to onset of tic
what is the epidemiology of Tourette’s syndrome
Boys 3-5x > girls
non-hispanic white 2x more likely than hispanic or AA
1/162 children
what is the pathophysiology of Tourette’s syndrome
cause unknown
what are possible risk factors for Tourettes syndrome
smoking during pregnancy
pregnancy complications
low birthweight
infection - research with mixed results about preceding infection
what are the genetic components of Tourettes syndrome
research shows inherited dominant gene
boys with gene 3-4x more likely to display symptoms
may be triggered by abnormal metabolism of dopamine
what is the presentation of TS
typically onset between 5-10yo, most commonly 6yo
tics increase in frequency and severity between 8-12yo
tic improvement seen in adolescence, may become tic free
what are the three types of Tic Disorders
Tourettes
Persistent
Provisional
what are Tourettes tics
both. motor and vocal tics
present for at least 1 year
what are persistent tics
Motor OR vocal tics
present at least 1 year
what are provisional tics
motor OR vocal OR both
present less than 1 year
what are the diagnostic requirements for TS
2+ motor tics
1+ vocal tics
Tics present for at least 1 year
tics onset prior to age 18 years
symptoms are NOT result of medication or other medical condition
what are common associated mental health, behavioral or developmental disorders diagnosis with TS
ADHD and Anxiety/OCD
as well as other learning disabilities
what chronic health conditions are also diagnosed with TS
asthma, Hearing or vision, bone, joint or muscle conditions or suffered brain injury or concussion
what is the treatment for TS
goal is tic suppression - but response highly variable to any tx
Medications: Neuroleptics, alpha adrenergic, stimulants, or SSRIs
what Neuroleptics are used to treat TS
Haloperidol, Pimozide, Aripiprazole
can cause sedation, weight gain, cognitive dulling’ tremor, dystonic reactions, parkinsonian - like symptoms
Concern for Tardive dyskinesia - associated with chronic med use
what is Tardive Dyskinesia associated with
chronic medication use
what alpha adrenergic medications are used to treat TS
Clonidine or guanfacine - usually first line
can cause sedation
what is typically the first line treatment of TS
Neuroleptic medications
but neurologist typically use: alpha adrengerics such as clonidine, guafacine
what stimulants are used to treat TS
methylphenidate, dextroamphetamine
research shows control concomitant aDHD without worsening tics
what SSRI medications are used to treat TS
Fluoxetine, paroxetine, sertraline
best in patients with concomitant OCD/Anxiety
what medications are often used with patients with TS and OCD/Anxiety
SSRI such as fluoxetine, paroxetine or sertraline
what are other non-medication treatments for TS
deep brain stimulation
medical marijuana
dental orthotic devices liked used for TMJ
behavioral therapies
what behavioral therapies are often used to help with TS
Biofeedback, supportive therapies
Habit reversal
cognitive behavioral intervention for tics (CBIT) - NIH funded trial
what is the only medication approved for TS
Neuroleptics
what medications are contraindicated in patients with tics
Stimulants
How is TS managed
in most cases - tics decrease during adolescence/early adulthood and sometimes disappear completely
Genetic screening for future parents
what does ALS stand for and what is another name for it
Amyotrophic Lateral Scerlosis
AKA Lou Gehrig’s Disease
what is ALS
A RARE neurological disease affecting the control of voluntary muscle movements - DISTALLY TO CENTRALLY
both upper and lower motor neurons degenerate or die
PROGRESSIVE disease involving a gradual onset - muscles gradually weaken, fasciculate and become atrophic
what is lost with ALS
brain loses ability to initiate and control voluntary movements
patients lose their strength and ability to eat, speak, move and breathe
what is the cause of ALS
unknown but believed both genetics and environment involved
what is the epedimilogy of ALS
can strike at any age, but most common between 55 - 75 years old
Caucasians and non-hispanics more common
Military vets 1.5-2x more likely to develop
why do most patients die from ALS
die from respiratory failure usually 3-5 years from symptom onset
~10% survive 10+ years
what are genetic connections with ALS
mutations discovered suggest changes in RNA processing leads to motor neuron degeneration
other mutations - “protein recycling” - malfunction in how proteins broken down and used again
possible defects in neuron shape/structure increase susceptibility to toxins
what are the environmental connections with ALS
toxin exposure during warfare, strenuous physical activity
what ate the different types of ALS
Sporadic ALS and Familial (Genetic) ALS (FALS)
what is Sporadic ALS
90+% of cases
diagnosis occurs at random, no clearly associated risk factors, no history
what is FALS
5-10% of cases
inherited from one parent - autosomal dominant
mutations in > 12 genes responsible
what is the presentation of ALS
gradual onset, generally painless, progressive muscle weakness is most common initial symptom
early muscle weakness/stiffness
develops into more obvious weakness or atrophy
what are the symptoms of ALS
fasciculations in arms, leg, shoulder or tongue
muscle cramps
spasticity
muscle weakness affecting an arm, leg, neck or diaphragm
slurred and nasal speech, uncontrollable periods laughing/crying
difficulty chewing or swallowing
what is Limb onset of ALS
symptoms onset in arms and leg
what is bulbar onset of ALS
symptoms onset with speech or swallowing concerns/changes
how do symptoms ‘spread’ as the diagnosis progresses
varied patterns and severities
problems moving, dysphagia, dysarthria, dyspnea
eventually patient will be unable to stand, walk, use hands and arms
what are concerns with ALS patients
malnourishment - burn calories at faster rate, concern for weight loss
retain higher mental functions
how is ALS diagnosed
detailed history and physical exam (only motor neurons affected)
Testing to rule out other concerns
what is the treatment of ALS
no cure available
treatments used to control symptoms, prevent complications, ease living with diagnosis
medications
PT/OT/Speech therapy
Nutritional support
Breathing support
what are the medication therapies used for ALS
Riluzole
Edaravone
others used for pain control, depression, sleep disturbances, constipation, neuropathy
what is the purpose of Riuzole
decreases gluatmate levels which reduces motor nerve damage
what is the pupose of Edaravone
slows decline in daily functioning, may add several months to survival
what are breathing support types
non-invasive ventilation (NIV) - delievered via mask
Mechanical cough assist devices
“breath stacking”
Mechanical ventilation- tracheostomy
what are ALS patients at a greater risk for
High risk for pneumonia/aspiration as respiratory weakens/fails
what is one of the most important treatment types for patients with ALS
Nutritional support because they burn calories much faster
What is MS
multiple sclerosis
auto-immune process directed at the CNS
- resulting inflammation damages myelin and myelin producing cells
what are the symptoms types and severity based on
location of damage - damaged areas scar
what is the epidemiology of MS
most often appears in young adulthood, with incidence peaking ~30 yo
F>M (3:1)
what is the pathophysiology of MS
immunological
infectious factors
Environmental
Genetics
what are the immunological associations with MS
T cell mediated - T regulatory cells - fail to “shut off” inflammation; cytotoxic T cells - target myelin and myelin producing cells
B Cells (from T - cell activation) - produce antibodies and proteins causing further CNS damage
what are the infectious factors of MS
viral precursor?
Measles, canine distemper, HSV-6, EBV, chlamydia pneumonia
what are environmental factors of MS
Geographical - more frequent further away from equator
Vitamin D
Smoking
Obesity
what are the genetic factors of MS
not inherited disease but there is inherited risk
Highest if first degree relative with diagnosis
~200 genes identified as contributing to overall risk
what are disproven theories to MS
Environmental allergies
Household pets
Heavy metal exposure - mercury, lead or manganses
NutraSweeet (aspartame) use
what are the common symptoms of MS
Fatigue
bladder problems
parasethesias
vision problems
walking/gait difficulties
spasticity
weakness
cognitive changes
dizziness and vertigo
sexual problems
bowel problems
pain and itching
emotional changes
depression
what are less common symptoms of MS
speech problems
swallowing problems
tremor
seizures
breathing problems
hearing loss
what are secondary concerns with MS
repeated UTI
loss of muscle tone causing weakness, poor posture
decreased bone density, increased fracture risk
pressure sores from immobility
social, vocational complications
what are the different types of MS
clinically isolated syndrome (CIS)
Relapsing-remitting MS (RRMS) - most common
Secondary Progressive MS (SPMS)
Primary progressive MS (PPMS)
Radiologically isolated syndrome (RIS)
what is RIS
radiologically isolated syndrome
MRI abnormalities of brain/spinal cord consistent with MS lesions not explained by another diagnosis, with no hx neuro symptoms or abnormalities on physical exam
What is CIS
clinically isolated syndrome
1st episode of symptoms caused by inflammation/demyelination of CNS
symptoms MUST last > 24 hours
what is the treatment of CIS
FDA approved DMARDs - early treatment shown to delay MS onset
if Brain lesions on MRI are consistent with MS what are they likely to have
likely to have 2nd episode and have a diagnosis of RRMS
what is RRMS
Most common
relapses - clearly defined attaches of new/increasing neuro symptoms
Remission-periods of partial/complete recovery
NO APPARENT PROGRESSION DURING REMISSION
what is SPMS
secondary progressive MS
eventually transition from initial RRMS course
accumulation of disability with or without evidence of disease activity - progressive worsening of neuro function
UNIQUE TO EACH PATIENT when this will develop
what is PPMS
primary progressive MS - worst of the stages
worsening accumulation of disability from onset of symptoms without early relapses or remission
may have brief periods of diagnosis stable
PERSISTENTLY GETTING WORSE
what is the diagnosis of MS
no single test, symptoms, of PE findings that make the diagnosis by themselves
history and Physical exam are key
what is the common type of medication used for fatigue symptom management in MS
stimulants
what are the McDonald Criteria
diagnosis criteria of MS
dissemination in space (DIS) - 2+ damages in separate areas of CNS
Dissemination in time (DIT) - evidence damage occurred at different points in time
what is the treatment of MS
disease modification agents (immune modulating medications)
Relapse management
symptom management
what is the relapse management for severe MS
High dose Prednisone or High dose IV methylprednisolone
ACH
what is the prognosis of MS
it is NOT a terminal illness
most common cause of death in MS patients are secondary complications- i.e. immobility, chronic UTI, Compromised swallowing and or breathing
what are the goals of treatment for MS
relieving symptoms of the disease
treating acute relapses and shortening their duration
reducing frequency of relapses
preventing disease progression
What is NPH
Normal Pressure Hydrocephalus
- simply too much CSF in ventricles - unable to drain/absorb excess CSF, ventricles enlarge to accommodate and press on areas of the brain
what is the cause of NPH
cause is never known but may follow:
head injury, stroke or cerebral bleeding, meningitis, brain tumor, brain surgery
what is the epidemiology for NPH
usually occurs in older adults >60yo; developing slowly over time
what control areas are often affected by NPH
Legs - gait abnormality
Bladder - incontinence (occ. also bowl incontinence)
Cognitive processes (memory, reasoning, problem solving, speaking) - dementia symptoms similar to alzheimers
what are the preventative measures for NPH
No preventative measures
what is the presentation of NPH
subtle onset, worsening gradually
dementia symptoms
walking symptoms
urinary symptoms
other symptoms: Nausea, headache, difficulty with vision focus
what are the typical dementia symptoms with NPH
memory loss, speech problems, apathy/withrawal
difficulties with reasoning, paying attention or judgement
what are the typical walking symptoms associated with NPH
unsteadiness, sudden falls, shuffling steps, trouble initiating first step
“getting stuck”, “freezing” while walking
what are the typical urinary symptoms associated with NPH
incontinence urinary/feces, polyuria, urgency
how is NPH diagnosed
combination of dementia, walking and urinary symptoms should be altering
hx and PE with mental status and gait evaluation
No labs necessary - no imaging needed but may assist
lumbar puncture provides improvements of symptoms - possible benefit of surgical shunt
what are the 3 Ws of NPH
weird
wet
wobbly
what is the treatment of NPH
no cure or definitive management but symptoms can be reversed
non surgical - mood and behavioral issues, incontinence management, ambulatory assistance
surgical - shunt vs endoscopic third ventriculostomy
what is Myasthenia Gravis
muscle weakness that worsens after periods of activity and improves with periods of rest
chronic autoimmune disease causing weakness in skeletal muscles
what is the epidemiology of M. Gravis
M=W
all racial/ethnic groups
most common in women <40 yo and Men >60yo
not inherited or contagious
neonatal myasthenia
congential myasthenic syndromes (CMS)
what is the pathophysiology of M. Gravis
Interruption at NMJ - antibodies block/alter/destroy ACh receptors - antibodies to MuSK (muscle specific kinase) further impair signal transmission
Thymus - large (lymphoid hyperplasia) - believed to give incorrect instructions to developing immune cells
what are the presentation of M. Gravis
muscles controlling eye/eyelid movement, facial expression, swallowing most frequently affected - first noticeable symptom usually weakness of eye muscles
Variable severity
onset may be sudden and therefore misdiagnosed
what are common symptoms of M. Gravis
Ptosis (drooping of one/both eyelids)
Diplopia
Facial expression changes
Dysphagia (swallowing difficulties)
SOB
Dysarthria(impaired speech)
weakness in arms, hands, fingers, legs and neck
how is M. Gravis diagnosed
Edrophonium test, blood work, single fiber EMG, Imaging - CT/MRI for thymoma, Pulmonary function testing (PFT)
what is edrophonium test
drug blocks breakdown of ach and temporarity increases levels
typically used to test ocularmuscle weakness
what is seen on bloodwork for M.gravis
ach receptor antibodies
anti-MuSK antibodies
what is the most sensitive test for M.gravis
Single fiber EMG - detects impaired nerve to muscle signal transmission
what are the treatment of M. gravis
thymectomy - may be cure for some patients -~50% complete remission
Anti-cholinesterase medications
Immunosuppressive agents
plasmapheresis
IV immunoglobulin
hat is Mestinon used for
slows breakdown of ach at junction for M. gravis patients
what are complications of M. gravis
myasthenia crisis
MEDICAL EMERGENCY -respiratory muscles so weak require ventilator support
what is the treatment of Myasthenia crisis
Medical emergency - requires ventilator support
IV immunoglobulin, plasmapheresis effective reversals
what can myasthenia crisis be triggered by
infection
stress
surgery
adverse reaction to medication
what is the prognosis of M. gravis
with treatment, most significantly improve muscle weakness, able to live full lives
some cases: remission either temporary or permanent
what are patient instructions with M. gravis
budget energy, regular rest
rest the eyes or lie down briefly 2-3x/day
keep overall health good: good diet, sleep hygiene
good control of any other medical conditions
