Neuro Movement Disorders

Question 1

Sydenham Chorea

Answer 1

• Definition:
  
  • a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS) –the bacteria that causes rheumatic fever. Occurs in weeks-months following Group A strep
• Pathophys:
  
  • autoimmune attack of basal ganglia
• Prevention:
  
  • treating GABHS with abx
• S/sxs:
  
  • Rapid, irregular, & aimless involuntary movements of the arms/legs, trunk, & facial muscles aka “Chorea” → Dance chorus → dancing movements
• *Note: pt is alert & can speak during the attacks
• *Sxs usually last for 3-6 weeks
• PE:
  
  • Check the Heart!
• Tx:
  
  • Most children recover on their own but a small number will continue to have disabling, persistent chorea. ⅓ will have recurrent attacks ~2 years after initial attack
  • No specific management
    
    • -Mild: bed rest during period of active movements
    • -Sedative drugs: barbiturates or benzodiazepines, if severity of movements interferes with rest
    • -Penicillin for next 10 years to prevent manifestations of rheumatic fever

Question 2

Essential Tremor

Answer 2

• Most common cause of action tremor
• Risks: genetics (“familial tremor”) -autosomal dominant
• Prevalence:
  
  • 1% of overall population, 5% > 60 yo
• S/sxs:
  
  • Bilateral tremor involving the hands that is brought out by arm movement & sustained with antigravity postures
  • Affects common daily activities: writing, drinking, eating, getting dressed
• PE:
  
  • Diagnostic Criteria:
  • -Isolated tremor consisting of bilateral upper limb action tremor
  • -At least 3 years duration
  • -With or without tremor in other locations (head, voice, lower limbs)
  • -Absence of other neurologic signs (dystonia, ataxia, parkinsonism)
• Dx:
  
  • Clinical Dx: rule out treatable causes: meds, thyroid disease, metabolic problems, chemicals, toxins
  • Dopamine transporter imaging can be diagnostic but not necessary
• Tx:
  
  • Slowly Progressive. Can involve the head, voice, & rarely the legs (in addition to the upper legs)
  • Beta-Blockers (propranolol), primidone (Mysoline→ barbiturate), topiramate (topamax), clonazepam (Klonopin → benzo)
  • -Surgery: deep brain surgery, thalamotomy, MRI guided UTZ

Question 3

Huntington Disease

Answer 3

• Definition:
  
  • an inherited (Autosomal dominant) progressive neurodegenerative disorder characterized by choreiform movements (random, brief, non-rhythmic), psychiatric problems & dementia
• Pathophys_:_
  
  • CAG trinucleotide repeat expansion in huntington (HTT) gene(don’t need to know this); progressive atrophy of neurons, ventricles swell and push on the caudate nucleus and putamen which normally receive input from the cerebral cortex
• S/sxs:
  
  • *Insidious onset at 30-50yo
  • -Wild mood swings
  • -Chorea: wild, jerky movements of extremities
  • -Gradual loss of cognitive & motor skills → dementia
  • *3Ms: mood, movement, memory
• Pe:
  
  • In later stages, chorea affects the diaphragm, pharynx, & larynx → dysarthria, dysphagia, & involuntary vocalizations
  • -Restlessness, fragility
  • -Quick, involuntary hand movements
• Dx:
  
  • Dx based on clinical features, family hx of disease, and confirmatory genetic testing for CAG
  • -CT/MRI: cerebral & striatal atrophy
• Tx:
  
  • Chronic, slowly progressive disease → death. Average length of survival is 10-20 years
  • Symptomatic & Supportive Management
  • Genetic testing available for individuals at risk

Question 4

Parkinson Disease: Def, pathophys, stages of pre-symptoms, risks, epidemiology, s/sxs

Answer 4

• Definition:
  
  • Progressive neurodegenerative disease characterized by resting tremor, rigidity, bradykinesia, & postural instability
• Pathophys:
  
  • neuro, behavioral, emotional, cognitive, & psychological disease d/t idiopathic loss of dopaminergic neurons in the substantia nigra
• Stages of Pre-Symptomatic Phase:
  
  • dopamine homeostatic compensatory mechanisms are capable of masking the disease
  • Increased activity of the basal ganglia output nuclei as dopamine homeostatic breaks down
  • Increased intensity of compensation in structures outside the basal ganglia
• Risks:
  
  • TBI, toxin exposure (pesticides, solvents, metals, pollutants), males, older age,family hx (GBA gene), some medications
• Epidemiology:
  
  • incidence increases rapidly > 60 yo a mean age of 70yo, early onset if <50yo (genetic relationship more likely)
• S/sxs:
  
  • Rest tremor: intermittent, “pill rolling” tremor, improves with voluntary activity
  • Rigidity: cogwheel rigidity (ratchet pattern of resistance & relaxation), resistance to passive movement
  • Bradykinesia: described as weakness, incoordination, tired: starts distally (decreased manyak dexterity in fingers), shuffling, festination (impulse to take much quicker shorter steps)
  • Postural instability: feeling of imbalance & tendency to fall, occurs much later in disease course
• Parkinsonism: generic term for the sxs of tremor, stiffness & slowness of movements

Question 5

Parkinson Disease: PE, Dx, & Tx (Finish Treatment Later)

Answer 5

• PE:
  
  • Distract patient by asking him/her to perform mental calculations to uncover tremor
  • -Pull test: examiner stands behind the patient & firmly pulls the patient back (if normal they would just step backward)
  • Micrographia: small handwriting
  • Hypomimia: masked facial expression
  • Non-Motor Features:
    
    • *Big impact on QOL
    • -Cognitive dysfunction & dementia: predictor of mortality
    • -psychosis & hallucinations
    • -mood disorders: depression
    • -Sleep disturbances: fragmented
    • -Fatigue
    • -Autonomic Dysfunction: sexual dysfunction, constipation, orthostasis
    • -Olfactory dysfunction
    • -Pain sensory disturbances
• Dx:
  
  • Diagnosis Clinically Established:
    
    • -Presence of Parkinsonism
    • -No absolute exclusion criteria
    • -At least two supportive criteria
    • -No red flags
  • MRI: lewy bodies (associated with psychosis)
  • Stages:
    
    • Stage 1: sxs are mild & only on one side of the body
    • -Stage 2: sxs on both sides of the body or at midlines
    • -Stage 3: sxs characterized by loss of balances & slowness of movement
    • -Stage 4: sxs are severely disabling
    • -Stage 5: sxs are severe & characterized by inability to rise
• Tx:
  *

Question 6

Tourettes Disorder

Answer 6

• Definition:
  
  • neurological disorder manifested by motor & phonic tics with onset during childhood
• Pathophys:
  
  • complex interaction between social & environmental factors & multiple genetic abnormalities; bilineal transmission
• Epidemiology:
  
  • 0.52% prevalence, M:F is 4:1, rare among African Americans
• S/sxs:
  
  • *onset between 2-18yo
  • -Sudden, brief, intermittent movements (motor tics) or utterances (vocal tics): involuntary, simple or complex
  • -Profanity is common
• PE:
  
  • Neuro exam normal except for presence of tics
• Co-morbidities:
  
  • ADHD (63%), ODD, CD, anxiety, depression, autism spectrum disorder (35%), learning disabilities, speech or language problems, developmental delays, intellectual disabilities, OCD
• Dx:
  
  • Motor & Verbal tics occurring daily or intermittently for 1 year, onset before 18 yo, tics not caused by medications/substances
  • CT/MRI is unremarkable
• Tx:
  
  • Average tic severity declines yearly during adolescence. Tics may persist into adulthood, but severity gradually diminishes over time
  • Mild: no treatment
  • -Moderate-Severe: dopamine antagonists (tetrabenazine), alpha-adrenergic agonists (clonidine),
  • -ADHD: stimulant meds (methylphenidate)
  • -Depression/anxiety: SSRIs (Clomipramine, fluoxetine (prozac))
  • -Behavioral tx: awareness training, competing response training to reduce tics