Tourette & ALS

Question 1

Describe Tourette Syndrome

Answer 1

• motor and phonic tics
• onset during childhood (2-15 with peak 11-12)

Question 2

Describe the rule of 3rds with Tourette Syndrome

Answer 2

3rd will resolve
3rd will remain the same
3rd will progress

Question 3

What is the functional and chemical pathophysiology of TS

Answer 3

functional: disturbances in the mesolimbic circuit leading to disinhibition

chemical: dopamine and serotonin excess/pathways

Question 4

What are some of the comorbidities associated TS

Answer 4

ADHD, OCD, ODD, anxiety/mood, sleep disorders

Question 5

Describe motor tics

Answer 5

eye blinking, face grimace, shoulder shrug, head jerk, kicking, jumping, inappropriate gestures, SIB

Question 6

Describe phonic tics

Answer 6

grunt, bark, moan, throat clear, sniffle, bad words, echoing, repeating

Question 7

Describe the arc of a tic

Answer 7

• feeling it build, an urge to complete the tic
• doing the tic
• feeling of relief

Question 8

Describe the DSM-V criteria for TS

Answer 8

Requires all 4 to be met
- multiple motor and 1+ vocal tics
- may wax and wane but >1yr
- onset before age 18
- not secondary to substances or other medical conditions

Question 9

Tx of TS

Answer 9

• education
• based on QOL
• combo tx of tics and comorbidities
• decrease tics (HRT, CBIT, CBT)
• possible meds (SSRI)

Question 10

Describe why kids with TS are more likely to have academic underachievement

Answer 10

• lack of education on the teachers/schools/classmates end
• comorbidities limiting
• distracted by tics

Question 11

Describe ALS

Answer 11

progressive terminal neurodegenerative disorder that causes muscle weakness, disability, associated with the upper and lower motor neurons

Question 12

What is the most common initial symptom of ALS

Answer 12

asymmetric hand weakness (80%)

Question 13

What physical exam signs are positive in upper motor neuron ALS

Answer 13

Babinski, Hoffman, pronator drift

Question 14

What are the characteristics of UMN ALS

Answer 14

Limb/Trunk: slowness of movement, incoordination, stiffness, hyperreflexia, spasticity

Bulbar: dysphagia, dysarthria, jaw stiffness, clonus, laughing/crying

Question 15

What are characteristics of LMN ALS

Answer 15

Limb/Trunk: weakness, atrophy, fasciculation, fibrillation on EMG, foot drop, poor rise from chair

Bulbar: poor eye/lip closure, hoarseness, weak mouth muscles

Question 16

What is the 1st line medication for ALS

Answer 16

Riluzole

Question 17

What is the median survival rate of ALS

Answer 17

3-5 years

Question 18

What is ALS called in the UK

Answer 18

Motor Neuron Disease

Question 19

What is ALS characterized by at the cellular level

Answer 19

motor neuron degeneration and death with gliosis replacing lost neurons/scarring

Question 20

Approximately what % of ALS cases are genetic

Answer 20

10%

Question 21

What are some potential pathogeneses of ALS

Answer 21

• reduced uptake of glutamate leading to excitotoxicity
• mutations in genetic components/dysregulated RNA metabolism
• defective axonal transport

Question 22

What are the structural associations of ALS

Answer 22

• primary motor cortex (B4)
• corticubulbar tract or corticospinal (pyramidal) tract

Corticobulbar: CN 5, 7, 9-12 (mastication, facial, throat, tongue)
Corticospinal: skeletal muscles of trunk & limbs

Question 23

Describe the ALS pattern of spread for unilateral arm onset

Answer 23

1. contralateral arm
2. ipsilateral leg
3. contralateral leg
4. bulbar muscles
5. respiratory muscles months-years later

Question 24

Describe the ALS pattern of spread for bulbar onset

Answer 24

1. one arm
2. contralateral arm
3. respiratory muscles months-years later

Question 25

What does an MRI of the brain typically show in ALS (while usually normal)

Answer 25

increased signal in the corticospinal tracts and hypointensity of the primary motor cortex

Question 26

When should a muscle biopsy be performed in ALS

Answer 26

never

Question 27

Upper motor neuron lesions are associated with what symptoms

Answer 27

- slowness - stiffness - incoordination - hyperreflexia

Question 28

Lower motor neuron lesions are associated with what symptoms

Answer 28

- weakness - atrophy - amyotrophy - fasciculations

Question 29

Describe what happens to muscle mass in UMN vs LMN ALS

Answer 29

UMN: slight decrease LMN: major decrease

Question 30

describe what happens to muscle strength in UMN vs LMN ALS

Answer 30

UMN: spastic LMN: flaccid

Question 31

describe what happens to muscle tone in UMN vs LMN ALS

Answer 31

UMN: increased LMN: decreased

Question 32

describe what happens to deep tendon reflexes in UMN vs LMN ALS

Answer 32

UMN: hyperreflexic LMN: hyporeflexic

Question 33

are fasciculations present in UMN or LMN ALS

Answer 33

LMN ALS

Question 34

are fibrillations present in UMN or LMN ALS

Answer 34

LMN ALS

Question 35

Which form of ALS (UMN or LMN) are the following tests positive in: Babinski, Hoffman, pronator drift

Answer 35

UMN ALS