MND

Question 1

What is it?

Answer 1

A progressive, ultimately fatal disease where motor neurones stop functioninng. Sensory neurons are not involved.

Question 2

Subtypes?

Answer 2

Amyotrophic Lateral Sclerosis (ALS)- most common type

Progressive Bulbar Palsy- second most common type. This primarily affects speech and swallowing muscles

Primary lateral sclerosis

Progressive muscular atrophy

Question 3

Pathophysiology?

Answer 3

degeneration of both upper and lower motor neurones

Question 4

Aetiology /Risk factors?

Answer 4

• Genetic component - 5-10% of cases found to be inherited
• increased risk w/ smoking, expsoure to heavy metals and certain pesticides

Question 5

What is the main feature of MND?

Answer 5

progressive muscle weakness throughout whole body

• trunk
• limbs
• face
• speech

Question 6

How does it present initially?

Answer 6

• muscle weakness noticed first in upper limbs
• pts notice increased fatigue when exercising, clumsiness, tripping, dropping things more often and slurred speech

Question 7

Signs?

Answer 7

Upper and lower motor neuron signs

• UMN
  
  • hyperreflexia (brisk reflexes)
  • spasticity
  • Babinski sign
• LMN
  
  • reduced reflexes
  • reduced tone
  • muscle wasting
  • fasciculations

Question 8

what occurs rarely in MND, and later on

Answer 8

• involvement of ocular muscles
• smooth muscle and cardiac involvement doesnt occur
• autonomic dysfunction occurs later on

Question 9

Mx?

Answer 9

ALS–> Riluzole (glutamate antagonist)

• can slow the progression of the disease and increase life expectancy by a couple months

NIV to support breathing at night

MDT approach