Dystonia Eval And Management

Question 1

What is dystonia

Answer 1

Involuntary alteration in the pattern of muscle activation during voluntary movement or maintenance of posture

Or

Contraction of agonist and antagonist muscles with attempts at movement

Question 2

What factors worsen dystonia?

Answer 2

Position
Tasks
Emotional state
Illness 
Improves in sleep

Question 3

What is the anatomic localization of focal dystonia

Answer 3

One limb

Question 4

What is the anatomic localization of multi focal dystonia?

Answer 4

One arm, opposite leg

Question 5

What is the anatomic localization for segmental dystonia?

Answer 5

Arm and ipsilateral leg

Question 6

What is the anatomic localization of generalized dystonia?

Answer 6

Three limbs, often trunk

Question 7

What is spasticity

Answer 7

A velocity dependent increase in tone or a catch

Question 8

What is rigidity?

Answer 8

Increased tone that is not velocity dependent

Question 9

What are the first two steps of dystonia eval per Abby Collins

Answer 9

1) good history with special attention on birth history

2) Brain MRI (spine if truncal)

Question 10

What are the second tier tests in Abby’s dystonia workup

Answer 10

Dystonia panel of normal MRI,
NBIA panel if iron accumulation
Metabolic testing including uric acid copper ceruloplasmin,

Question 11

What are some of the key differences between the imaging findings of white matter disease if prematurity and PKAN?

Answer 11

PKAN primarily with discrete signal change in GP, white matter of prematurity posterior predominant, more in thalamus

Question 12

What are some of the characteristic imaging features of Huntington’s disease

Answer 12

Caudate atrophy (sometimes putamen)

Question 13

What are some of the hallmark features of Huntington’s disease in children?

Answer 13

Rigidity
Dystonia
Retropulsion
Epilepsy

Question 14

Tier 1 meds for dystonia

Answer 14

trihexyphenidyl
Baclofen
Benzos
Carbidopa/levodopa

Question 15

Characteristics of dopa responsive dystonia

Answer 15

Lower extremity dystonia
Postural (worse with standing)
Diurnal variation (morning vs afternoon)

Question 16

What are the goal doses of sinemet for DRD

Answer 16

600 mg levodopa > 80 lbs
300 mg 40-80 lbs
150 mg 20-40 lbs

All divided TID

Use 25/100 tabs! Take with food!

Question 17

Which AED’s are somewhat effective in dystonia (case reports)?

Answer 17

Levetiracetam/Briviteracetam

Oxcarbazepine (don’t use without EEG in case generalized discharges)

Gabapentin -least effective but consider with concomitant sleep issue

Phenobarb- “nuclear option” nightly or PRN for severe dystonia for crisis 3 mg/kg PRN

Question 18

What type of dystonia is particularly effective for oromandibular dystonia?

Answer 18

Baclofen

Question 19

What are common side effects of trihexyphenidyl?

Answer 19

Blurry vision
Dry mouth
Urinary retention
Worsens chorea
Cognitive slowing

Can treat dry mouth, urinary retention with pyridostigmine

Question 20

What is the mechanism of action of amantadine(used for hyperkinetic movement disorders)?

Answer 20

Direct and indirect effects on dopamine receptors, weak NMDA (similar to memantidine)