Amyotrophic lateral sclerosis (ALS)

Question 1

Amyotrhopic lateral sclerosis name meaning

Answer 1

amyotrophic (atrophys of fiber)
Lateral (lateral column of spinal cord)
sclerosis (inflm causing damage, hardening)

Question 2

ALS is a __________ neuron disorder

Answer 2

Motor neuron disorder, (AFFECTS MOTOR NEURONS ONLY)

Question 3

ALS higher incidence

Answer 3

in middle aged males (2x), therefore we can create expectation autoimmunity not involved

Question 4

ALS is

Answer 4

acute, progressive, death in 2-5yrs

-respiratory complications most frequent cause of death

Question 5

what is most frequent cause of death in ALS

Answer 5

-respiratory complications

Question 6

in ALS there is issues

Answer 6

with innervation to muscle, which causes motor function problems

Question 7

when word ends in ase

Answer 7

it is an enzyme

Question 8

Etiology of ALS

Answer 8

Sporadic (90-95%):
-SOD1 gene on chr 21 (aprox 5%)

Familial (5-10%):

• SOD1 (20%)
• other genes (80%) complex trait (polygenic & enviromental)

other components as well (viral trigger, autoimmune?)

Question 9

SOD1 gene

Answer 9

superoxide dismutase 1 gene:
gene makes enzyme that breaks down free radicals)
if gene intact enzyme will work, if mutated accumulation of free radicals

Question 10

Patho of ALS

Answer 10

-degeneration of motor neurons especially in:
anterior horn cells of spinal cord
motor nuclei in brain stem
upper motor neurons in cerebral cortex (connect brain to spinal cord)

-mechanism unclear: proposed to be via free radicals &/or glutamate toxicity (unclear why free radicals specifically targeting motor neurons)

Question 11

what do the upper motor neurons in cerebral cortex do

Answer 11

connect brain to spinal cord

Question 12

glutamate

Answer 12

neurotransmitter in excess can cause neurotoxicity

Question 13

manifestations of ALS

Answer 13

• muscle atrophy, weaknesss, fasciculations (muscle twitches)
• dysarthria (impaired speech, need to utilize muscles to speak, muscles associated w speech atrophy, problems)
• acute com
• intact cognition & sensory function

Question 14

what are fasciculations

Answer 14

muscle twitches

Question 15

what is dysarthria, what is dysphagia

Answer 15

dysarthria: impaired speech, need to utilize muscles to speak, muscles associated w speech atrophy, problems with speech)
dysphagia: cannot swallow d/t muscle atrophy causing aspiration (not able to cough because muscles atrophied)

Question 16

what are some acute complications form ALS

Answer 16

dysphagia & aspiration

Question 17

what is intact with ALS

Answer 17

intact cognition & sensory function

Question 18

Diagnosing ALS

Answer 18

• history, clinical presentation & physical exam

- electromyography

Question 19

what is electromyography

Answer 19

detects abnormal muscle & neuron functions

can look at muscle function & neuron function or both, from electrical stimulus

Question 20

treatment of ALS

Answer 20

-largely supportive (ex. Ensure flu shot, pneumnococcal vaccines, issues wiht ingestion of food d/t dysphagia< PEG tube- nutrition goes through stomach via abdominal wall)
-supportive care can turn into palliative care
-riluzole (antiglutamate neuro protection):
somehow prevents glutamate toxicity, does not know action, limited success