Lec 35 Hyperkinetic Movement Disorders

Question 1

What is a tremor?

Answer 1

• regular oscillatory movement around defined axis
• has a frequency and amplitude
• may occur at rest, with posture, or with kinetic movements

Question 2

What is an essential tremor? cause?

Answer 2

• action/posture tremor = get worse when you try to move affected area
• exacerbated by holding posture/limb position
• see in head, hands, voice, classically tremor in both hands
• worsens over time, rest tremor may emerge
• autosomal dominant inheritance pattern
• pts often self-medicated with alcohol to decrease tremor amplitude

pathology: loss of purkinje cells in cerebellum

Question 3

What is treatment for tremor?

Answer 3

• primidone [anticonvulsant]
• botulinum toxin injection
• beep brain stimulation in VIM of thalamus

Question 4

What is dystonia?

Answer 4

• slow, twisting, repetitive movements
• sustained involuntary muscle contractions
• worsens in certain postures
• can partially alleviate movement by touching affected body part
• maybe be focal or generalized
• due to Da or ACh dysfunction in basal ganglia
  ex. writers cramp, blepharospasm [eyelid twitch]

Question 5

What is DYT1 dystonia?

Answer 5

• autosomal dominant
• overrepresentation in ashkenazi jews
• begins in legs and progresses

Question 6

What is Dopa-responsive dystonia?

Answer 6

• leg dystonia in young children that worsens lateral in the day
• responsive to small doses of levodopa
• due to mutation in GCH1 gene
• not degenerative

Question 7

What is tardive dystonia?

Answer 7

• arises from treatment with medications that block dopamine receptors
• lip smacking + pursing, tongue protrusion

Question 8

What is rapid-onset dystonia and parkinsonism?

Answer 8

• genetic etiology
• begins abruptly in childhood
• develop bradykinesia with dystonia in face/hands/legs
• parkinsonism not responsible to levodopa

Question 9

What is monoclonus-dystonia?

Answer 9

• fast jerks of myoclonus + dystonia in neck, arms, trunk
• can lead to falls when walking
• myoclonus improves with alcohol

Question 10

What is monoclonus?

Answer 10

• sudden rapid shock-like muscle contractions
• can be in isolation or as part of other neuro diseases
• ex. hiccups, jerks, epliepsy, seen in renal and liver failure

Question 11

What is asterixis?

Answer 11

• negative monoclonus –> brief loss then resumption of muscle contraction

Question 12

What is chorea? cause?

Answer 12

• sudden irregular jerky purposeless movements
• most common in distal extremities

chorea = dancing

due to lesion of basal ganglia [huntingon]

Question 13

What are 2 treatments for essential tremor?

Answer 13

• primidone [anti-convulsant]

- beta blockers

Question 14

What is sydenham chorea?

Answer 14

• chorea post strep infection

- usually self limited and does not require treatment

Question 15

What causes huntingon disease/ pathophysiology?

Answer 15

• autosomal dominant CAG expansion [>38 repeats] on chromosome 4
• decreased GABA and ACh in brain, neuronal death via NBDA-R binding and glutamate toxicity
• progressive atrophy of striatum [particularly caudate nuclei] on imaging
• expansion of CAG repeats
  Caudate loses
  Ach and
  GABA

Question 16

What is presentation of huntington disease?

Answer 16

• manifests age 20-50
• present with
  1. chorea [starts clumsiness/fidgetiness], later get dysarthria, dysphagia, parkinsonism
  2. psych: aggression, depression
  3. dementia
  4. eye movments: slow saccade = early sign

Question 17

What is treatment for huntington?

Answer 17

• no cure, only symptomatic treatment
• dopamine antagonists [haloperidol] for psych
• dopamine depleting agents for chorea

Question 18

What are tics?

Answer 18

• unvoluntary production of movement/sound
• premonition sensation, suppressible, suggestible
• childhood onset –> occurs with OCD, ADHD in tourettes

Question 19

What is chorea ancanthocytosis?

Answer 19

• oral-buccal movements and history of seizure in young adult with chorea
• diagnose by presence abnormal erythrocytes on smear of peripheral blood

Question 20

What is an intention tremor? sign of what lesion?

Answer 20

• slow zigzag motion when pointing/extending toward target

- sign of cerebellar dysfunction

Question 21

what is a resting tremor?

Answer 21

• uncontrolled movement of distal appendages [hands]
• occurs at rest, alleviated by intentional movement
• characteristic of parkinsons

Question 22

What is pathogenesis of wilson’s disease?

Answer 22

• autosomal recessive
• inadequate hepatic copper secretion caused by mutation in ATP7B
• causes copper accumulation in liver, blood, eye, brain –> progressive degeneration

Question 23

What is presentation/symptoms of wilsons?

Answer 23

Copper is Hella Bad

C: decreased ceruloplasmin, cirrhosis, corneal deposits [kaiser fleicher rings], carcinoma

H: hemolytic anemia

B: basal ganglia degeneration
–> parkinsonian symptoms

A: asterixis

D: dementia, dyskinesia, dysarthria

usually 10-25 yo presents with these

Question 24

If you see liver symptoms + neuro/psych symptoms what should you think?

Answer 24

Wilson’s disease

Question 25

What is treatment for wilsons disease?

Answer 25

• penicillamine