Anterior Horn Cell Disorders - ALS

Question 1

ALS is what

Answer 1

Amyotrophic Lateral Sclerosis

Question 2

Meaning of ALS - variant

Answer 2

Can refer to several adult onset conditions characterized by progressive degeneration of motor neurons (variants)

Question 3

Meaning of ALS - Typical ALS

Answer 3

A specific form of motor neuron disease, involving both upper and lower motor neuron signs

Question 4

ALS - Define

Answer 4

Motor neuron disease

Adult onset, progressive, motor neuron system degeneration disease (both UMN and LMN)

Question 5

Amyotrophic means what

Answer 5

No muscle nourishment
Muscle atrophy, weakness, fasciculations
LMN signs

Question 6

Lateral Sclerosis means what

Answer 6

Degeneration and scarring (due to gliosis) of CST in spinal cord 
UMN signs (inc DTR, spasticity)

Question 7

S/S ALS - UMN

Answer 7

Spasticity
Hyperreflexia
Pathological reflexes

Question 8

S/S ALS - LMN

Answer 8

MM weakness
MM atrophy
Fasciculations
Hyporeflexia
Hypotonicity 
MM cramps

Question 9

S/S - Bulbar signs

Answer 9

Dysarthria
Dysphagia
Sialorrhea (salivation)
Pseudobulbar palsy

Question 10

S/S Respiratory

Answer 10

Nocturnal resp. difficulty
Exertional dyspnea
Accessory mm use
Parodoxical breathing

Question 11

Other s/s

Answer 11

Fatigue
Weight loss
Cochexia
Tendon shortening
Joint contractures

Question 12

2 types ALS - Ways to get it

Answer 12

Familial ALS

Spontaneous/Sporadic ALS

Question 13

Familial ALS

Answer 13

Less than 10% of all ALS cases

Question 14

Spontaneous/Sporadic ALS

Answer 14

90% of all cases

Etiology is unknown

Question 15

Prognosis

Answer 15

Non curable, is fatal

Median survival is 3 yrs (20% will survive up to 10 yrs)

Question 16

Better prognosis with what

Answer 16

early age

onset of limb weakness initially (as opposed to bulbar initially)

Question 17

ALS - cause of death is commonly

Answer 17

respiratory failure

Question 18

Main area of research for the cause

Answer 18

Glutamate toxicity
Glutamate is primary excitatory NT used by the motor system - it is normally broken down by a protein but people with ALS are deficient in that protein so there is a build up or clogging at the synaptic cleft
Excess amount of glutamate is toxic

Question 19

Other possible causes

Answer 19

SOD1 dysfunction
Microglial mediated neurotoxicity
Mitochondrial dysfunction

Question 20

SOD1 as a cause

Answer 20

Acts as an anti-oxidant in the cell and eliminates free radicals - not working properly in someone with ALS though so leads to oxidative damage and kills neurons

Question 21

Microglial mediated neurotoxicity as a cause

Answer 21

Microglia - main form of active immune defense in the CNS (surrounds the neuroglia) - with ALS there is a proliferation of microglia (too many of them) - and leads to enhanced inflammatory response which can lead to MN degeneration

Question 22

Mitochondrial dysfunction as a cause

Answer 22

Mitochondria regulating cell death - there is altered mitochondrial enzyme function though which can lead to oxidative damage and increased apoptosis

Question 23

Diagnostic parameters

Answer 23

Both UMN and LMN signs are present 
Absence of pain or sensory changes 
Intact bowel and bladder
Extraocular mm spared
Diagnostic imaging to rule other things out

Question 24

Diagnositc parameters - why is there an absence of pain and sensory changes

Answer 24

Spinocerebellar and sensory systems are spared

Question 25

Diagnostic Parameters - What else besides diagnostic imaging is done

Answer 25

``` EMG Muscle biopsies NCV Clinical presentation Clinical lab ```

Question 26

Treatment - medications for ALS

Answer 26

Riluzole - gluamate antagonist The only drug approved for tx fo ALS Effective in inc life 2-3 months

Question 27

Treatment - medicatiosn for people with ALS - for symptoms

Answer 27

``` Control salivation Antispasticity Mucolytics Anti-anxiety Anti-depressants Injectable B12 ```

Question 28

In the initial stages of the disease, most will present with

Answer 28

focal weakness, typically in the distal leg, hand, or bulbar mm Often see foot drop, inability to use hand with ADL, difficulty with speech/swallowing

Question 29

Clinical presentation - Cog

Answer 29

Executive function, memory loss in 50% of cases | About 15% have frontotemporal dementia

Question 30

Tx - nutrition

Answer 30

Ketogenic diet/supplementation SLP/nutritionist PEG tube

Question 31

Tx - communication

Answer 31

Speech language pathologist (SLP)

Question 32

Tx - respiratory intervention

Answer 32

Need to manage secretions with coughing techniques When VC decreases to 50% of predicted, may need to assist more with positive airway pressure Eventually need to decide on ventilatory support with tracheostomy of hospice

Question 33

Goals of PT

Answer 33

Optimize remaining function early on Maintain functional mobility Maximize QOL

Question 34

Stage 1 description

Answer 34

Independent in mobility and ADL, weakness in a specific group of mm (often is a distal limb)

Question 35

What to do in stage 1

Answer 35

``` Energy conservation Home modification Continue normal activities AROM/Stertching Strengthening of unaffected Aerobic exercise at submax ```

Question 36

Stage 2 description

Answer 36

Moderate weakness in groups of muscles | Usually distally

Question 37

Stage 2 - what to do

Answer 37

``` Adaptive equipment AROM/stretching Strengthening of unaffected Aerobic as able AAROM/PROM via caregivers to prevent contractures and pain ```

Question 38

Strengthening in stages 1 and 2

Answer 38

Exercise in several brief periods throughout the day - 2 to 3 sessions, 15 to 45 minutes total Lighter weights and less reps

Question 39

Stage 3 descrition

Answer 39

Mild-Moderate limitation of function, severe foot drop, marked hand weakness, neck flexion due to neck extensor weakness, STS deficits

Question 40

Stage 3 what to do

Answer 40

``` AFOs/splints/soft collar W/c for longer distances Lift devices for chairs PROM/AAROM Deep breathing, chest expansion/stretching ```

Question 41

Stage 4 description

Answer 41

Severe weakness in LEs

Question 42

Stage 4 what to do

Answer 42

``` WC - eval for power WC AAROM/PROM Isometric contraction Deep breathing Skin inspection/pressure relieving strategies ```

Question 43

Stage 5 description

Answer 43

Moderate to sever deterioration or mobility and endurance

Question 44

Stage 5 what to do

Answer 44

Power wc Lift for transfers at home Frequent position changes Pain - gentle AAROM/PROM, thermal modalities, splinting Head neutral position - might need to progress to rigid collar

Question 45

Stage 6 description

Answer 45

End stage, dependent

Question 46

Stage 6 what to do

Answer 46

Reposition Pain management Progressive respiratory distress - chest PT

Question 47

The role of exercise

Answer 47

Strengthening and aerobic exercises are effective | Cochrane review

Question 48

Stretching

Answer 48

No literature support but we know it can help with weakness that will lead to imbalance, it can help prevent mm shortening and contractures

Question 49

RCTs with exercise - strengthening

Answer 49

2 groups - 1 strengthening and stretching and the other was just stretching Group with strengthening had improved function on outcome measure and improved QOL Exercised 3/wk for 6 months

Question 50

Studies with aerobic exercise - mouse models

Answer 50

Mouse models show moderate intensity can increase survival, but high intensity worsens it

Question 51

Studies with aerobic exercise - RCT that had one group do aerobic program of choice and the other do their normal ADL

Answer 51

At 3 months, aerobic group had improved function and less spasticity At 6 months, there was less of a difference between groups