amyotrophic lateral sclerosis

Question 1

ALS is also known as?

Answer 1

Lou Gehrigs or Charcot disease

Question 2

ALS=

Answer 2

atrophy of fibers in lateral column of spinal cord, sclerosis= hardening/stiffening
-results in atrophy of MOTOR neurons

Question 3

ALS is the most common

Answer 3

degenerative disease of motor neurons

Question 4

is ALS short or long

Answer 4

short-lived. death is usually within 2-5 years

Question 5

who does ALS usually occur in ?

Answer 5

2x higher in males (likely not autoimmune)

-middle-age onset (late 40s-50s)

Question 6

etiology of ALS

Answer 6

-sporadic form: 90-95%—> mutated SOD1 gene on Chr 21 in ~5%
-SUPEROXIDE dimutase- breaks down free radicals: if defective, free radicals not broken down—> neurons damaged
-familial form: 5-10%,- mutated SOD1 in 20%, other genes mutated in other 80%
OTHER FACTORS: autoimmunity + viral infections (more research needed

Question 7

pathology of ALS…

Answer 7

degeneration of MOTOR neurons
1. anterior horn cells (found in grey matter- responsible for somatic motor output)
2. motor nucleus in the brain stem
3. upper motor neruons (UMN) in cerebral cortex- communicate messages between brain and SC (lower is SP to periphery)
- increased concentration of glutamate—> neurotoxicity
- free radical formation —> cell damage
why are the motor neurons targeted?? unclear…

Question 8

manifestations of ALS?

Answer 8

• muscles undergo ATROPHY: amyotrophic (neurons are not firing and muscles are not stimulated!)
• —> weakness, fasciculations (twitching)
• dysarthria (impaired speech): requires muscles and controlled breathing
• COGNITION IS INTACT!! and sensory fx

Question 9

acute complication of ALS?

Answer 9

dysphagia and aspiration (muscles arent triggered to cough: obstructed airway… can cause death!)
aspiration= GI stuff gets into resp

Question 10

diagnosis of ALS?

Answer 10

• exclude other problems by history, physical, examining
• electromyography: stimulate muscles through electrical nerve activation- apply electrical current to muscle, if muscle responds then it is not within muscle. apply to nerve, if muscle does not respond then it is nerve

Question 11

treatment of ALS?

Answer 11

• supportive care: symptomatic management ex. breathing issues, prophylactic management to decrease risk of resp infections
• PEG percutaneous endoscopic gastronomy tube thru abd wall into stomach and bypass mouth if pt cannot swallow, at risk for aspiration

Question 12

pharmacology for ALS?

Answer 12

ANITGLUTAMATE: neuroprotection

• RILUZOLE or rilutek
• addresses glutamate toxicity
• can extend life even by a few months!!