Amyotrophic Lateral Sclerosis

Question 1

What else is Amyotrophic Lateral Sclerosis called?

Answer 1

Lou Gehrig’s disease or Charcot’s disease

Question 2

Generally speaking, what kind of disorder is ALS?

Answer 2

It is a degenerative condition (progressive decline) with a short duration. It is a motor neuron disorder.

Question 3

Who is most affected by ALS?

Answer 3

middle-aged men, the incidence is twice as high

Question 4

What is the common duration of ALS? Is it ALS that normally causes death in these individuals?

Answer 4

individuals with ALS usually die in 2-5 years, usually from respiratory complications (the muscles of respiration atrophy)

Question 5

What is bulbar amyotrophic lateral sclerosis?

Answer 5

It is an atypical form of ALS that starts in the brain stem. It damages this area first and results in speech and swallowing being the first things affected.

Question 6

What causes ALS?

Answer 6

• 90-95% of ALS is sporadic/idiopathic
• —– in the sporadic form though, 5% have an affected superoxide dismutase gene (SOD1) on chromosome 21 (normally the protein breaks up superoxide, a free radical)
• 5-10% of ALS is familial
• —- in these cases, 20% have the SOD1 gene affected and 80% have other genes involved
• there may be other factors (autoimmunity, viral trigger)

Question 7

Is sensory function or cognition affected in ALS?

Answer 7

no

Question 8

What happens in ALS? What is the pathology?

Answer 8

• there is permanent damage/degeneration of motor neurons

- some damage may be from free radicals or glutamate toxicity, but it is unclear

Question 9

Which motor neurons are affected in ALS?

Answer 9

• anterior horn cells in the spinal cord
• motor nuclei (clusters of cell bodies in the CNS) in the brain stem
• upper motor neurons in cerebral cortex (neurons that run between the brain and spinal cord)

Question 10

what are the signs and symptoms of ALS?

Answer 10

• muscle atrophy, weakness and fasciculations (twitching) from decreased innervation and consequent disuse
• dysarthia = impaired speech from muscles involved being affected
• acute complications: dysphagia and aspiration

Question 11

How is ALS diagnosed?

Answer 11

• clinical presentation

- electromyography

Question 12

How is ALS treated?

Answer 12

• supportive (breathing support, PEG tube for nutrition, vaccinations to help ward off respiratory issues)
• riluzole is a neuro-protective drug that may address glutamate toxicity and can increase life by a few months