Movement Disorders Flashcards

1
Q

Essential Tremor

A
  • Most common movement disorder in adults
  • The etiology is unknown, but speculated to have a genetic component and
    follows an autosomal dominant model, seen in ~50-70% of cases
  • Prevalence is equal in men and women. Tends to be slightly higher in caucasians
    than people of African descent
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2
Q

Essential Tremor clinical findings

A
  • Essential tremor is activated by voluntary or
    resisted movement (ie arms held against gravity).
  • Frequency is usually moderate to high (6-12 Hz)
  • Symptoms often worsen with anxiety, excitement, fatigue, and temperature
    extremes
  • Not usually exacerbated by caffeine
  • It is typically relieved temporarily by small amounts of Alcohol
  • Not present during sleep
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3
Q

Commonly affected areas for essential tremor:

A

– Most often affects the hands/arms
– Head - can be vertical or horizontal
– Voice
– Less commonly the face/trunk
* Legs are almost never affected.

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4
Q

Natural Course of essential tremor

A
  • Usually worsens gradually over time, with severity increasing as well as new
    areas of the body being affected.
  • Disability for ES can be significant, often affecting writing, using tools, and eating
    or drinking.
  • Rarely, can be accompanied by gait changes, mild cognitive impairment, and
    resting tremor
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5
Q

Essential Tremor diagnosis

A
  • Diagnosis is clinical, based on symptoms and
    ruling out other causes
    – Labs - CBC, CMP, Thyroid
    – Avoid MRI unless focal or sudden changes
  • Use this table to as a guide
  • Differential Diagnosis:
  • Wilson Disease
  • Electrolyte Abnormalities
  • Medication/drug induced
  • Psychogenic tremor
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6
Q

Essential Tremor treatment

A
  • Treatment is symptomatic, not curative
  • When the tremor is affecting function or causing difficulty with ADLs:
    – Propranolol
    – Primidone
  • Alcohol is not generally recommended as treatment, but small amounts may
    help is social situations (like ½ glass of wine).
  • Second line includes gabapentin, topiramate, and benzodiazepines
  • Thalamic stimulator or subdural motor cortex stimulator can be placed
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7
Q

Huntington Disease

A
  • An Incurable progressive disorder
  • Sometimes called Huntington’s Disease. Named after George Huntington, the
    physician who described it as “hereditary chorea” in 1872
  • Characteristic features include:
    – Involuntary movements
    – Dementia
    – Behavioral changes
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8
Q

Huntington Disease epidemiology

A

*Mean age at onset ranging
from 35-44 years * Varies from 2 years to
older than 80 years
*Juvenile HD (Westphal
variant), defined as
having an age of onset of
younger than 20 years

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9
Q

Huntington Disease pathophysiology

A

– Neostriatum
– Marked neuronal loss also is seen in deep layers of the
cerebral cortex
– Other regions, including the globus pallidus, thalamus,
subthalamic nucleus, substantia nigra, and
cerebellum, show varying degrees of atrophy
*Autosomal dominant inheritance
*CAG nucleotide repeat

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10
Q

Huntington Disease clinical presentation

A

*Chorea
* Fidgetiness
* Uncontrollable flailing of the
extremities
* Less prominent in juvenile HD
*Gradually, chorea is replaced by
dystonia and parkinsonian features
*Dysarthria and dysphagia *Abnormal eye movements *Tics and myoclonus *Cognitive decline and dementia

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11
Q

Huntington Disease diagnosis

A

*Genetic testing
*CT or MRI or PET
* Bicaudate diameter
* Cerebral atrophy

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12
Q

Huntington Disease treatment

A

*Neurology referral
*Severe chorea
* Clonazepam or diazepam
* Valproic acid
* Dopamine-depleting agents, such as reserpine or tetrabenazine
* Neuroleptics
*Patients who have predominant features of bradykinesia and rigidity may
benefit from treatment with levodopa or dopamine agonists
*SSRIs for depression
*Antipsychotic medications may be necessary

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13
Q

Huntington Disease prognosis

A

– Death usually occurs 10-25 years after diagnosis
* average of 19 years
– Pneumonia and CVD most common cause

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14
Q

Parkinson’s Disease (PD)

A
  • PD, or Parkinsonism, or Parkinson disease, or Parkinson’s disease
    – Slowly progressive disorder
    – Degenerative disorder
    – Bradykinesia - slow and decreased movement
    – Resting tremors
    – Postural and gait instability
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15
Q

Parkinson’s Disease (PD) pathophysiology

A
  • Lewy body formation - Synuclein
    protein build up in neural cells
    – usually in the nigrostriatal system
  • Rare cases where there are no Lewy
    bodies, but there is a mutation of
    PARK 2 gene
  • Dopaminergic cells degenerate in the
    substantia nigra
    – results in depletion of dopamine
    and results in motor
    manifestations of PD
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16
Q

Parkinson’s Disease (PD) clinical findings

A
  • Insidious onset and asymmetric
  • Resting tremor of one hand is often the 1st symptom
  • Slow and coarse tremor
  • Worse at rest, Lessening during movement
  • Absent at sleep
  • Tremor increases with emotional stress and fatigue
  • Watch the wrist and fingers - Pill rolling
  • Jaw and tongue are commonly affected (Not often the voice)
  • Tremor may be less prominent as disease progresses
  • Increased rigidity - increased resistance to passive movement
  • Bradykinesia - slow movements, hypokinesia and akinesia can also be seen
  • Postural instability - Can result in falls
  • Difficulty initiation of gait
  • Difficulty in maneuvering
    – Sense of instability while walking
  • Parkinsonian shuffle
    – Quick short, almost sliding gait
  • Facial expressions are flat and fixed
  • Micrographia (Small writing)
  • Soft voice
  • Clumsiness
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17
Q

Non-motor symptoms of parkinsons disease

A

– Decreased sense of smell
– Disorder of REM
– Daytime sleepiness
– Forgetfulness
– Excessive salivation
– Urinary urgency

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18
Q

Physical exam tips for assessing parkinson’s disease

A
  • Resting tremor
    – assess with pt sitting relaxed with hands in the lap
    – ask pt to count backward from 10 to 1
  • Assess tremor with outstretched hands
    – look for a postural tremor
  • Finger-to-nose test to assess for kinetic tremor
  • Rigidity is tested by looking for cogwheeling, flex and extend at wrist and elbows
  • Observe facial expression and blink rate
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19
Q

Parkinson’s Disease diagnosis

A

– PD is a clinical diagnosis based on motor symptoms
* Unilateral resting tremor
* Bradykinesia
* Rigidity
* Finger-to-nose test: tremor disappears or drastically reduces
* Postural instability
– Shuffle gait, hunched shoulders

20
Q

Parkinson’s Disease treatment

A
  • Goals: control signs and symptoms for as long as possible while minimizing
    adverse effects
  • Medications
    – Amantadine
    – Sinemet
    – Combination of: Levodopa and Carbidopa
21
Q

Amantadine use in parkinson’s disease

A

– For mild cases without disability
– MOA is unclear, thought to potentiate CNS dopaminergic responses
– Side effects are rare

22
Q

Sinemet use in parkinson’s disease

A

– Combination of: Levodopa and Carbidopa
– Levodopa
* Provides the greatest antiparkinsonian benefit for motor signs and
symptoms, with the fewest adverse effects in the short term
* Long-term use is associated with the development of motor
fluctuations (“wearing-off”) and dyskinesias
– Carbidopa
* Inhibits the decarboxylation of levodopa to dopamine in the systemic
circulation, allowing for greater levodopa distribution into the central
nervous system

23
Q

Monoamine Oxidase (MAO) - B Inhibitors (Selegiline) use in parkinson’s disease

A
  • Inhibits the degeneration of dopamine and therefore helps decrease
    fluctuation in dopamine concentration
24
Q

Dopamine Agonists (ropinirole, pramipexole) use in parkinson’s disease

A
  • Help to mitigate the effects of long-term levodopa therapy
  • Act directly on dopamine receptors to stimulate dopamine response.
  • Used in pts that are on Levodopa and develop dyskinesias
  • 15% increase in adverse events such as somnolence, sudden-onset sleep,
    hallucinations, edema, and impulse control disorders
25
Q

Tardive Dyskinesia (TD)

A

a hyperkinetic movement disorder caused by exposure to
dopamine receptor-blocking agents and lasts at least a month even after stopping
the causative medication.
* Hyperkinetic Movements: Unwanted or excessive abnormal and/or normal
muscular/motor activity and movements

26
Q

Tardive Dyskinesia etiology

A
  • Exposure to Dopamine receptor-blocking agent.
  • Most Common: First and second generation antipsychotic drugs and
    metoclopramide (an antiemetic)
27
Q

RFs for tardive dyskinesia

A

Older age, duration of exposure, and higher doses

28
Q

Tardive Dyskinesia pathophysiology

A
  • Not well understood
  • Likely due to antagonism of dopamine receptors causing overactivity in D1
    receptors and/or dopamine receptor supersensitivity
29
Q

Tardive Dyskinesia (TD) clinical presentation

A
  • Most Common: Oral, facial, and lingual dyskinesia (Video)
  • Onset: onset is insidious, starting very subtly and fluctuating.
  • Strangely, symptoms often first appear after a dose reduction or stopping the
    medication
30
Q

Tardive Dyskinesia (TD) diagnosis

A
  • This is a clinical diagnosis based on:
    – Presence of typical dyskinetic or dystonic involuntary movements
    – History of at least one month of dopamine receptor-blocking agent
    – Exclusion of other causes
31
Q

Tardive Dyskinesia screening

A

Abnormal involuntary movement scale (AIMS)

32
Q

Tardive Dyskinesia (TD) treatment

A
  • Discontinue or lower dose of the offending agent.
  • Moderate to Severe: VMAT2 inhibitor (valbenazine, deutetrabenazine, or
    tetrabenazine)
  • Refractory/Severe: botulinum toxin injections, surgical therapy with deep brain
    stimulation (DBS)
33
Q

Restless Leg Syndrome (RLS)

A

RLS is a sensorimotor disorder characterized by an irresistible urge to move the
legs, arms or other body parts
– Usually with paresthesias (the creepy crawlies)
– More prominent symptoms when inactive or reclined and peaks around
bedtime

34
Q

Restless Leg Syndrome (RLS) etiology

A

– Primary is an idiopathic CNS disorder, in most cases
– Secondary causes
* Folate deficiency, DM, Amyloidosis, RA, Lyme Disease, Sjogren’s,
Frequent blood donation, pregnancy
* Neuroleptics, Diphenhydramine, TCAs, SSRIs, SNRIs, Alcohol, Caffeine,
lithium, beta blockers

35
Q

Restless Leg Syndrome (RLS) pathophysiology

A
  • Unclear. Hypothesis:
  • Reduced CNS iron stores. This is a consistent finding in patients with RLS, even if
    serum iron is often normal.
  • Alterations in dopaminergic systems. Although RLS symptoms improve with
    dopaminergic therapy, there is no consistent CNS dopamine finding in RLS patients.
    There might be increased dopamine metabolism.
    – Dopamine receptor antagonists will often worsen RLS symptoms. This includes
    antipsychotic medications and many anti-nausea medications (eg,
    prochlorperazine, chl
36
Q

Restless Leg Syndrome (RLS) presentation

A
  • Hx, Hx, Hx
    – Difficulty sleeping, complaining of having to move, but no involuntary twitches
    or movements
    – Daytime somnolence
  • Physical exam is usually unremarkable
37
Q

Restless Leg Syndrome (RLS) diagnosis - DSM 5

A

DSM-5 criteria
* An urge to move the legs that is usually accompanied by or occurs in
response to uncomfortable and unpleasant sensations in the legs,
characterized by all of the following: (1) the urge to move the legs begins
or worsens during periods of rest or inactivity; (2) the urge is partially or
totally relieved by movement; and (3) the urge to move legs is worse in
the evening or at night than during the day or occurs only in the evening
or at night
* Symptoms occur at least 3 times per week and have persisted for at least 3
months
* Symptoms cause significant distress or impairment in social, occupational,
educational, academic, behavioral or other areas of functioning
* The symptoms cannot be attributed to another mental disorder
* The disturbance cannot be explained by the effects of a drug of abuse or
medication

38
Q

Restless Leg Syndrome (RLS) lab testing

A

– Iron deficiency - check for it
* Iron, ferritin, transferrin, TIBC
– If suspect of secondary RLS
* CMP, FBG, TSH, F-T4, Folate, B-12, Magnesium
* Other tests according to differential
– Polysomnography (PSG) - watch them sleep

39
Q

Restless Leg Syndrome (RLS) treatment

A

– May not need to treated if intermittent or sporadic
– Medications
* Dopaminergic agents
– Dopamine agonists - pramipexole, ropinirole, bromocriptine, rotigotine
* Benzodiazepines (clonazepam)
* Opioids (codeine)
* Anticonvulsants (gabapentin pregabalin)
* Presynaptic alpha 2 -adrenergic agonists (clonidine)
* Iron supplementation
– Sleep hygiene
– Change dietary habits such as decreased caffeine, nicotine, alcohol use
– Physical modalities such as massage, bathing, TENS units or similar

40
Q

Tourette Syndrome (TS)

A
  • Chronic motor and vocal tics
    – Can be associated with OCD and ADHD
41
Q

Tourette Syndrome (TS) etiology

A

– Some genetic and nongenetic causes
– GABHS infection
– Prefrontal cortex lesion, basal ganglia, and thalamus lesions have been reported
too.

42
Q

Tourette Syndrome (TS) epidemiology

A

– 3 cases per 1,000 people
– Caucasians more prevalent, reason unclear
– Males more likely 5:1
– Most common onset is before 18 yo
* 9-14 yo common onset - progress in severity to about 19-20 yo
* decreases during adolescence
– Only 1% persist into adulthood

43
Q

Tourette Syndrome (TS) pathophysiology

A

– Biochemical, imaging, neurophysiologic and genetic studies support
hypothesis that TS has an inherited, developmental disorder of
neurotransmission
– thought to be caused by abnormality in the basal ganglia and inferior frontal
cortex
* causing disinhibition through cortico-striatal-thalamic-cortical loops,
with an overly active caudate nucleus

44
Q

Tourette Syndrome (TS) clinical findings

A

– Tics that fluctuate in severity,
distribution, and character over
intervals that are usually from weeks to
years
– Tics may not be present at first encounter, especially while directly examining the pt.
– Ask the parent to video the tics and bring them to a follow up visit
– Learn to watch the patient out of the corner of your eye while speaking directly to a family member or while charting.

45
Q

Tourette Syndrome (TS) Tic

A

– Response to an irresistible impulse * not involuntary – Echolalia or echopraxia * copycat speech or movement – Sensory tics refer to repeated,
unwanted, uncomfortable
sensations, often in absence of actual
stimulus
– Coprolalia * refers to unprovoked, unwanted
outbursts of obscenities and
occurs in 10-40% of pts with TS

46
Q

Tourette Syndrome (TS) treatment

A

– Symptomatic - no curative or preventive treatments
– Behavioral adaptation
* supportive counseling or restructure of school environment
– Behavioral therapy
– Treatment of concomitant conditions
* ADHD, OCD
– Medications - when interfering with life
* Alpha2-adrenergics - clonidine or guanfacine are first-line
* Neuroleptics - haloperidol and pimozide