Motor Neurone Disease (MND)

Question 1

Definitions in MND

Answer 1

• Amylotrophic lateral sclerosis (AML) - most common and specific type (Stephen Hawking)
• Progressive bulbar palsy - second most common, primarily affects muscles of talking and swallowing
• Progressive muscular atrophy
• Primary lateral sclerosis

Question 2

Pathphysiology of MND

Answer 2

• Exact cause unclear
• Genetic component
• Increased risk with:
  
  • FHx
  • Smoking
  • Exposure to heavy metals
  • Exposure to pesticides
• Progressive degeneration of upper and lower motor neurones
• Sensory neurones are spared

Question 3

Presentatin of MND

Answer 3

• Typical patient is a late middle aged man with an affected relative
• Insidious, progressive weakness of the muscles throughout the body affecting the lmbs, trunk, face and speech
• Weakness first presents in upper limbs
• Increased fatigue when exercising
• Clumsiness
• Slurred speech
• LMN disease signs:
  
  • Muscle wasting
  • Reduced tone
  • Fasciculations
  • Reduced reflexes
• UMN disease signs:
  
  • Increased tone or spasticity
  • Brisk reflexes
  • Upgoing plantar responses

Question 4

Diagnosis of MND

Answer 4

• Based on clinical presentation and excluding other conditions that could be causing symptoms

Question 5

Management of MND

Answer 5

• No effective treatments for halting or reversing progression
• Riluzole can slow progression and extend survival by a few months in AML
• Edaravone can slow progression (not used in UK)
• NIV to support breathing
• End of life care important
• Patients usually die of respiratory failure or pneumonia