Motor neuron disease

Question 1

What is the most common MND phenotype in adults?

Answer 1

Amyotrophic lateral sclerosis (ALS)

Question 2

Is MND treatable?

Answer 2

No

Question 3

What is the average time to death from diagnosis in MND?

Answer 3

18-20 months

Question 4

What are typical presentations?

Answer 4

Muscle weakness
- Potentially problems with speech, swallow & breathing

Question 5

Does MND effect sensory ability?

Answer 5

No purely motor

Question 6

How does MND begin?

Answer 6

Focal onset (E.g. foot drop or arm weakness) and then this continuously spreads till dead or completely paralyzed

Question 7

What is the average time to death from symptom onset in Scotland?

Answer 7

3 years

Question 8

What is the lifetime risk of developing MND?

Answer 8

1/400

Question 9

What proportion of MND patients are ‘sporadic’ and ‘familial’?

Answer 9

90% sporadic
10% familial

Question 10

A genetic cause has been detected in what percentage of ‘sporadic’ and ‘familial’ cases?

Answer 10

20% of ‘sporadic’
60% of ‘familial’

Question 11

What are the conditions that come under the MND ‘umbrella’?

Answer 11

• Amyotrophic lateral sclerosis (ALS)
• Primary lateral sclerosis (PLS)
• Progressive muscular atrophy (PML)
• Progressive bulbar palsy (PBP)

Question 12

When is progressive muscular atrophy most common?

Answer 12

In young people

Question 13

When does ‘sporadic’ MND peak?

Answer 13

50-75 Y/O - Falls off after 80

Question 14

What percentage of MND is PML responsible for?

Answer 14

10%

Question 15

What are clinical signs of upper motor neuron problem?

Answer 15

• Increased tone
• Hyper-reflexia
• Extensor plantar responses
• Spastic gait
• Exaggerated jaw jerk
• Slowed movements

Question 16

What are clinical signs of lower motor neuron problem?

Answer 16

• Muscle wasting
• Weakness
• Fasciculations
• Absent or reduced deep tendon reflex

Question 17

Does ALS present as an upper or lower motor neuron problem?

Answer 17

Mixed symptoms
- Hyper-reflexia
- Fasciculations & muscle wasting

Question 18

What percentage of patients have only upper motor neuron signs?

Answer 18

10% - Very rare

Question 19

PBP is more common in men or women?

Answer 19

Women

Question 20

What management options are there for MND?

Answer 20

Communication support
Nutritional support
Care for upper respiratory tract

Question 21

Bulbar MND (PBP) effects what?

Answer 21

Tongue muscles
Facial Muscles
Pharyngeal muscles

Question 22

What variants of MND have a more benign prognosis?

Answer 22

One limb onset syndromes
- Flail arm
- Flail leg
Primary lateral sclerosis (PLS)

Question 23

What is the primary investigation for MND?

Answer 23

Electrophysiology

Question 24

What is the mechanism of MND?

Answer 24

Motor neuron degeneration and eventually death

Question 25

How is MS diagnosis made?

Answer 25

Look for mixture of upper & lower motor neuron signs with no sensory symptoms
- Diagnosis of exclusion

Question 26

How often are patients seen for management?

Answer 26

4-6 weekly

Question 27

What does bulbar dysfunction lead to?

Answer 27

Speech and swallowing issues

Question 28

How is metabolic rate effected in MND?

Answer 28

It is doubled
- Weight loss is a big issue

Question 29

What drugs can be given for muscle cramps?

Answer 29

Baclofen

Question 30

What drugs can be given for muscle spasms?

Answer 30

Baclofen
Tizanidine
Dantrolene
Gabapentin

Question 31

When should Non-invasive ventilation (NIV) be offered?

Answer 31

Type 2 respiratory failure

Question 32

What drugs can be given for shortness of breath/anxiety?

Answer 32

Lorazepam

Question 33

What type of dementia is associated with MND?

Answer 33

Frontotemporal dementia