Degenerative neurologic diseases

Question 1

ALS pathology

upper and lower motor disease

Answer 1

progressive and massive loss of anterior horn cells in SCI and motor neurons in brain stem

degeneration of Bertz cells in motor cortex

demyelination and gliosis of the corticospinal and corticobulbar tracts

Question 2

corticobulbar tract

Answer 2

carries info from the primary motor cortex through the internal capsule and cerebral peduncle

carries CN information thru brainstem (pons and medulla)

Question 3

ALS epidemiology

Answer 3

0.6-2.6 per 100k/year
men more at 3:2
10% family and inhereted
avg age: 57
age of onset: 55-65

Question 4

targets of ALS

Answer 4

1. brain motor cortex
2. brain stem
3. spinal cord
4. LMN
5. body’s muscle

Question 5

types of ALS

Answer 5

sporadic - 95%
familial

Question 6

genetic etiology

Answer 6

caused by the long arm of chromosome 21

Question 7

sporadic etiology

Answer 7

no known cause but 90%
complex protein misfolding disorder

Question 8

endemic etiology

Answer 8

Guam
20/10k women
50/100k men

Question 9

median survival rate

Answer 9

2-4 yeras after the disease with some survivors beyond 10 (5-10%)

mitochondrial dysfunction related to microglia inflammation

Question 10

ALS pathology

Answer 10

loss of regulation of glutamate from reduced transporter

Question 11

early clinical presentation for ALS

Answer 11

muscle stiffness
muscle twitching
progressive muscle weakness
muscle atrophy
most have pain
CN involvement

Question 12

clinical presentation

Answer 12

motor neuron loss and rapid progressive weaknesss
UMN and LMN signs (!!)
initially insidious loss of function + tongue fasiculation
weakness, profound fatigue, muscle cramps, atrophy or swallowing, speaking and eating
75% start wtih limb disorders distally
reduced dexterity of UE - intrinsic muscle wasting and cramping

Question 13

king’s clinical staging

Answer 13

0 - presx
1 - involved of one clinical region (disease onset)
2 - two clinical region
3 - 3 clinical region
4 - respiratory or nutritional fail
5 - death

Question 14

MITOS functional staging

Answer 14

0 - functional involvement (disease onset)
1 - loss of independence in one domain
2 - loss of independence in 2 domain
3 - loss of independence in 3 domain
4 - loss of independence in 4 domains
5 - death

Question 15

ALS progression

Answer 15

3-5 year progression
some variants of ALS demonstrate longer survival length

Question 16

dx of ALS

Answer 16

disease of exclusion (corticobulbar testing)
- swallow study
- tongue
- lip (oblicularis oris, buccinator)
- rate of speaking

Question 17

progression of ALS

Answer 17

idiopathic progressive degeneration of anterior horn cell and their associated neurons:
- hemiplegic, flail arm
- swallowing, speaking

Question 18

respiratory compromise

progression of ALS

Answer 18

beacuse of respiratory failure (rapid with initial bulbar findings)
- supine posture decreases vital capacity (dyspnea)
- sleeping is difficult with supine
- weak ineffective cough

Question 19

respiratory failure

progression of ALS

Answer 19

diaphragmatic
intercostal
accessory respiratory muscle weakness

Question 20

early stages of ALS

Answer 20

muscle weakness
fasiculation
muscle cramping
fatigue
poor balance
slurred speech

Question 21

middle stages of ALS

Answer 21

more severe muscle weakness
paralysis in some muscles
difficulty swallowing
difficulty eating/chewing
breathing issues
bouts of uncontrollable laughter or crying (pseudobulbar effect)

Question 22

late stages of ALS

Answer 22

paralysis in most muscles
extremely limited mobility
inability to speak
inability to brath w/o assistance
inability to drink w/o assistance