Movement Disorders - Clin Med

What does this refer to

• A 65-year-old man present with a tremor in his right hand.

• His tremor is most apparent at rest and improves with movement.

• His movements are noticeably slower and he has difficulty initiating movement.

• Physical exam, the patient appears apathetic and has rigidity with passive arm movement.

• Gait testing is notable for shuffling with a stooped posture.

Parkinson’s Disease

What does this refer to

• Neurodegenerative disease

• Progressive disorder of the nervous system

• Idiopathic dopamine depletion

• Characterized by

  • Bradykinesia

  • Rigidity

  • Postural instability

  • Resting tremor

Parkinson’s Disease

What does this refer to

• 60,000 cases dx every year in the US

• M > F

• Family hx

• Genetic link

EpidemiologyParkinson’s Disease

What does this refer to

• Late(MC) and early onset

• Family hx/genetic link

  • Autosomal recessive

  • Autosomal dominant (MC)

• Hx TBI

• Drug induced

• Toxins

EtiologyParkinson’s Disease

What does this refer to

• Mutations in the LRRK2or SNCA (autosomal dominant) or PARK7, PINK1, or PRKN gene (autosomal recessive)

• Loss of dopaminergic neurons failure of Ach inhibition in the basal ganglia

• Most cases of Parkinson’s —> protein deposits called Lewy bodies

• Seen in dead or dying dopamine-producing neurons

• Absence of Lewy bodies —> Parkinsonism

PathogenesisParkinson’s Disease

What does this refer to

• Resting tremor

• Worse at rest and stress

• Relieved with voluntary activity, intentional movement and sleep

• Usually starts on 1 side of the body

Clinical History Parkinson’s Disease

What does this refer to

Physical examParkinson’s Disease

What do

es this refer to

Physical examParkinson’s Disease

What does this refer to

• Postural instability and classic gait

Gait assessmentParkinson’s Disease

What does this refer to

ConsiderationsParkinson’s Disease

What does this refer to

• Hypomimia (masked facial expression)

• Decreased spontaneous eye blink rate

• Speech impairment, including hypokinetic dysarthria, hypophonia, and palilalia (repetition of a phrase or word with increasing rapidity)

• Dysphagia

• Sialorrhea

Craniofacial motor featuresParkinson’s Disease

What does this refer to

• Blurred vision

• Impaired contrast sensitivity

• Hypometric saccades

• Impaired vestibuloocular reflex

• Impaired upward gaze and convergence

• Eyelid opening apraxia

Visual abnormalitiesParkinson’s Disease

What does this refer to

MusculoskeletalParkinson’s Disease

What does this refer to

• Gait

• Shuffling, short-stepped gait

• Freezing

• Festination

Gait assessmentParkinson’s Disease

What does this refer to

Non-motor symptomsParkinson’s Disease

What does this refer to

• Alzheimer’s Disease

• Cardioembolic stroke

• Chorea

• Huntington ds

• Lewy body dementia

• Essential tremor

Differential diagnosisParkinson’s Disease

What does this refer to

WorkupParkinson’s Disease

What does this refer to

CharacteristicsParkinson’s Disease

What does this refer to

• Consult/referral Neurology

• Physical/Occupational Therapy

• Deep brain stimulation for rigidity and tremors in some patients

Clinical interventionParkinson’s Disease

What does this refer to

Complementary & alternative therapyParkinson’s Disease

What does this refer to

• Levodopa-carbidopa (Sinemet) 1st line

• Dopamine agonists may be used as initial treatment

  • Bromocriptine (Cycloset or Parlodel)

  • Pramipexole (Mirapex)

  • Ropinirole (Requip)

• Anticholinergics

• Antiviral

  • Amantadine (Gocovri) (treats influenza but increases dopamine)

Clinical pharmacotherapeuticsParkinson’s Disease

What does this refer to

• Severe disability or death

  • 25% of patients within 5 yrs onset sx

  • 89% within 15yrs onset

• Older age at onset and initial rigidity/hypokinesia can be used to predict (1) a more rapid rate of motor progression in those with newly diagnosed Parkinson disease and (2) earlier development of cognitive decline and dementia; however, initially presenting with tremor may predict a more benign disease course and longer therapeutic benefit from levodopa

• Older age at onset, dementia, and decreased responsiveness to dopaminergic therapy may predict earlier nursing home placement and decreased survival

PrognosisParkinson’s Disease

What does this refer to

• A 30-year-old woman presents with a two-year history of anxiety, gait instability, and progressively worsening tics.

• She has no family history of neurologic disease, but her father committed suicide at age 32.

• MRI scan of the brain shows atrophy of the cerebral cortex and caudate nucleus.

Huntington’s Disease

What does this refer to

• Incurable, adult-onset inherited disorder characterized by the triad

  • Extrapyramidal movement d/o

  • Progressive cognitive decline (dementia)

  • Behavioral disturbances

Huntington’s Disease

What does this refer to

• Autosomal dominant —> Neurodegenerative diseases

• M = F

• Any age

• Dx < 20yo → juvenile variant

• MC 30-50yo

• Death within 10-20yrs after onset

• Greatest frequency in European ancestry

• Less common in Japanese, Chinese, and African descent

EpidemiologyHuntington’s Disease

What does this ref

er to

EtiologyHuntington’s Disease

What does this refer to

• Presents before age 20

• Akinetic-rigid phenotype

• Chorea is typically absent

• Paternal inheritance

juvenile onsetHuntington’s Disease

What does this refer to

• Characterized by

  • Involuntary movements

    • Chorea

    • Early chorea —> fidgetiness

  • Cognitive deterioration

  • Psychiatric dysfunction

• Less Common sx

  • Weight loss

  • Difficulty swallowing

  • Aspiration

Clinical historyHuntington’s Disease

What does this refer to

Physical examHuntington’s Disease

What does this refer to

Features ofHuntington’s Disease

What does this refer to

• Movement, cognitive & behavioral sx

• Early chorea → fidgetiness

Physical examHuntington’s Disease

What does this refer to

Stages of disease progressionHuntington’s Disease

What does this refer to

• Tardive Dyskinesia

• Parkinson Disease

• Tourette’s syndrome

• Chorea gravidarum

• Systemic Lupus Erythematous (SLE)

• Multiple Sclerosis

• Schizophrenia

Differential diagnosisHuntington’s Disease

What does this refer to

WorkupHuntington’s Disease

What does this refer to

• Consult/referral Neurology

• Referral for genetic counseling

• Support groups

• Severe chorea

  • Assistive equipment

  • Helmets

  • Padded reclining chairs

  • Low beds

  • Protective padding of the environment

Clinical interventionHuntington’s Disease

What does this refer to

Clinical pharmacotherapeuticsHuntington’s Disease

What does this refer to

• Progressive

• Inevitably fatal

  • MC 10-20 yrs after onset of sx

PrognosisHuntington’s Disease

What does this refer to

• A 62-year-old man reports involuntary shaking of both his hands, arms, and head.

• The hand shaking appears to worsen with writing, eating, or drinking from a cup.

• During periods of stress, his shakes worsens.

• He has noticed that drinking wine improves his symptoms.

• Family history is significant for his father also having similar symptoms.

• On physical examination, there is a 4-10 Hz tremor elicited when both of his arms are outstretched forward.

• There is no tremor at rest.

Essential Tremor

What does this refer to

• Rhythmic, oscillatory movement

• Characterized by a slowly progressive postural and/or kinetic tremor

• Usually affects bilateral UE

• Postural tremor occurs when a person maintains a position against gravity, such as holding the arms outstretched.

• Kinetic tremor is associated with any voluntary movement, such as moving the wrists up and down or closing and opening the eyes.

Essential Tremor

What does this refer to

• MC cause of action tremor

• Incidence increases with age

• Familial component

• No prevalence with race/ethnicity

• M = F

• MC 35-45yo

• Risk Factors

  • Family hx

  • Aging

EpidemiologyEssential Tremor

What does this refer to

• Result of an abnormally functioning central oscillator,

• Genetic

EtiologyEssential Tremor

What does this refer to

• Action tremor of hands & arms

• Onset w/ voluntary movement

• May also affect voice, head, face, lips

• Sx may improve with small amounts of alcohol, but worsen with large amounts

Clinical historyEssential Tremor

What does this refer to

• TCAs

• Depakote

• Dopamine

• Lithium

• Metoclopramide (Reglan)

• Neuroleptics

• Theophylline

• Thyroid hormone

Drugs associated withEssential Tremor

What does this refer to

• Visible tremor

• Worsens with intentional movement (“stress”)

• Tremor may improve with small amount of alcohol ingestion and rest

• Both upper extremities are typically affected

• Mild asymmetry is not uncommon

• Muscle tone and reflexes are normal

Physical examEssential Tremor

What does this refer to

• Parkinson disease

• Cerebellar tremor

• Movement disorders

• Psychogenic tremor

• Drug induced tremor

• CML

• Wilson disease

Differential diagnosisEssential Tremor

What does this refer to

WorkupEssential Tremor

What does this refer to

• Consult/referral Neurology/Neurosurgery

• Surgical intervention for refractory cases

  • Thalamotomy

Clinical interventionEssential Tremor

What does this refer to

• Typically no treatment is needed

• Propranolol (1st line)

• Primidone (2nd line)

• Alprazolam (3rd line)

Clinical pharmacotherapeuticsEssential Tremor

What does this refer to

• Korean herbal medicine

• Acupuncture/chiropractic care

• Guided imagery

• Meditation

• Yoga

Complementary & alternative therapyEssential Tremor

What does this refer to

• Disability is common

• Decreased quality of life

• Increased mortality in patients >65yo

PrognosisEssential Tremor

What does this refer to

• A 6-year-old boy is brought to the pediatrician by his mother due to noticing him "acting strange."

• She reports that the patient would jerk his head rapidly and sniff a considerable amount of times per day for over a year.

• The jerking and sniffing episodes would begin and end abruptly, and the frequency would increase during periods of increased stress.

• She notices the patient trying to suppress these sniffing episodes and jerking movements, and appears relieved after they occur.

• Neurologic exam is normal besides the neck jerking and sniffing.

Tourette’s Syndrome

What does this refer to

• Neurological disorder manifested by sudden, brief, intermittent motor and phonic tics

• Included in DSM-V

Tourette’s Syndrome

What does this refer to

• M > F (4 : 1)

• Age 2-15yrs

• Similar among ethnicities EXCEPT

  • Uncommon AA

EpidemiologyTourette’s Syndrome

What does this refer to

EtiologyTourette’s Syndrome

What does this refer to

• Tics are the clinical hallmark findings

  • Motor

  • Verbal/phonetic

  • Self-mutilating

Clinical historyTourette’s Syndrome

What does this refer to

Tourette syndrome

What does this refer to

Diagnostic criteria – DSM-5Tourette’s Syndrome

What does this refer to

• Chorea

• Complex Partial Seizures

• Frontal lobe syndromes

• Hemifacial spasm

• Huntington’s disease

• Dystonia

• Myoclonus

• Obsessive-compulsive disorder

Differential diagnosisTourette’s Syndrome

What does this refer to

WorkupTourette’s Syndrome

What does this refer to

• Habit reversal therapy

• Psychotherapy

Clinical interventionTourette’s Syndrome

What does this refer to

• Most patients do not require medical management

• Dopamine blocking agents

  • Tetrabenazine (Xenazine)

  • Risperidone (Risperdal)

  • Haloperidol (Haldol)

• Alpha-2 adrenergics

  • Clonidine (Catapres)

  • Guanfacine (Intuniv)

• Clonazepam as adjunct

Clinical pharmacotherapeuticsTourette’s Syndrome

What does this refer to

Complementary & alternative therapyTourette’s Syndrome

What does this refer to

• Persists throughout life

• Improvements in sx in adolescence and adulthood

• Sx can be so severe they are disabling

• Most common disability is social

• Tics interrupt behavior and thought

PrognosisTourette’s Syndrome