Neuromuscular Disease

Question 1

Where are the 4 possible sites of Neuromuscular disease

Answer 1

1. The Anterior Horn Cell
2. The Peripheral Nerve
3. The Neuromuscular Junction
4. The muscle

Question 2

What is the pathological process underlying Motor Neurone Disease

Answer 2

TDP-43 deposits

Question 3

Motor Neurone Disease - Clinical features

Answer 3

• Wasting + weakness of 1 limb (70%)
• Co-existing frontotemporal dementia (40%)
• ## Prominent bulbar signs before limb (20%)

Question 4

Motor Neurone Disease - Examination findings

Answer 4

Mixed UMN + LMN signs

• Wasting + Fasciculations (LMN)
• Extensor plantar response (UMN)
• Brisk reflexes (UMN)
• Weakness

Question 5

What is Primary Lateral Sclerosis

Answer 5

Motor neurone disease limited to UMN signs

• Spastic paresis
• Survival generally longer

Question 6

How do you diagnose MND

Answer 6

Clinical diagnosis

- EMG in all 4 limbs supportive

Question 7

Motor Neurone Disease - Management

Answer 7

Supportive

• maintain nutritional status
• supportive respiratory care

Glutamate antagonists - riluzole
- prolongs time til ventilation ~3 months