Tourette & ALS Flashcards
Describe Tourette Syndrome
- motor and phonic tics
- onset during childhood (2-15 with peak 11-12)
Describe the rule of 3rds with Tourette Syndrome
3rd will resolve
3rd will remain the same
3rd will progress
What is the functional and chemical pathophysiology of TS
functional: disturbances in the mesolimbic circuit leading to disinhibition
chemical: dopamine and serotonin excess/pathways
What are some of the comorbidities associated TS
ADHD, OCD, ODD, anxiety/mood, sleep disorders
Describe motor tics
eye blinking, face grimace, shoulder shrug, head jerk, kicking, jumping, inappropriate gestures, SIB
Describe phonic tics
grunt, bark, moan, throat clear, sniffle, bad words, echoing, repeating
Describe the arc of a tic
- feeling it build, an urge to complete the tic
- doing the tic
- feeling of relief
Describe the DSM-V criteria for TS
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
Tx of TS
- education
- based on QOL
- combo tx of tics and comorbidities
- decrease tics (HRT, CBIT, CBT)
- possible meds (SSRI)
Describe why kids with TS are more likely to have academic underachievement
- lack of education on the teachers/schools/classmates end
- comorbidities limiting
- distracted by tics
Describe ALS
progressive terminal neurodegenerative disorder that causes muscle weakness, disability, associated with the upper and lower motor neurons
What is the most common initial symptom of ALS
asymmetric hand weakness (80%)
What physical exam signs are positive in upper motor neuron ALS
Babinski, Hoffman, pronator drift
What are the characteristics of UMN ALS
Limb/Trunk: slowness of movement, incoordination, stiffness, hyperreflexia, spasticity
Bulbar: dysphagia, dysarthria, jaw stiffness, clonus, laughing/crying
What are characteristics of LMN ALS
Limb/Trunk: weakness, atrophy, fasciculation, fibrillation on EMG, foot drop, poor rise from chair
Bulbar: poor eye/lip closure, hoarseness, weak mouth muscles
What is the 1st line medication for ALS
Riluzole
What is the median survival rate of ALS
3-5 years
What is ALS called in the UK
Motor Neuron Disease
What is ALS characterized by at the cellular level
motor neuron degeneration and death with gliosis replacing lost neurons/scarring
Approximately what % of ALS cases are genetic
10%
What are some potential pathogeneses of ALS
- reduced uptake of glutamate leading to excitotoxicity
- mutations in genetic components/dysregulated RNA metabolism
- defective axonal transport
What are the structural associations of ALS
- 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
Describe the ALS pattern of spread for unilateral arm onset
- contralateral arm
- ipsilateral leg
- contralateral leg
- bulbar muscles
- respiratory muscles months-years later
Describe the ALS pattern of spread for bulbar onset
- one arm
- contralateral arm
- respiratory muscles months-years later
What does an MRI of the brain typically show in ALS (while usually normal)
increased signal in the corticospinal tracts and hypointensity of the primary motor cortex
When should a muscle biopsy be performed in ALS
never
Upper motor neuron lesions are associated with what symptoms
- slowness
- stiffness
- incoordination
- hyperreflexia
Lower motor neuron lesions are associated with what symptoms
- weakness
- atrophy
- amyotrophy
- fasciculations
Describe what happens to muscle mass in UMN vs LMN ALS
UMN: slight decrease
LMN: major decrease
describe what happens to muscle strength in UMN vs LMN ALS
UMN: spastic
LMN: flaccid
describe what happens to muscle tone in UMN vs LMN ALS
UMN: increased
LMN: decreased
describe what happens to deep tendon reflexes in UMN vs LMN ALS
UMN: hyperreflexic
LMN: hyporeflexic
are fasciculations present in UMN or LMN ALS
LMN ALS
are fibrillations present in UMN or LMN ALS
LMN ALS
Which form of ALS (UMN or LMN) are the following tests positive in: Babinski, Hoffman, pronator drift
UMN ALS
