Motor Neurone Disease

Question 1

What is MND?

Answer 1

Untreatable and rapidly progressive neurodegenerative condition
-Mainly clinical diagnosis

Question 2

What does MND cause?

Answer 2

Progressive weakness and eventually death usually as a result of respiratory failure or aspiration

Question 3

What is death from MND usually as a result of?

Answer 3

Respiratory failure

Aspiration

Question 4

Most common type of MND?

Answer 4

Amyotrophic lateral sclerosis

Question 5

What is MND AKA?

Answer 5

ALS

Lou Gehrig’s disease

Question 6

Who gets MND?

Answer 6

• Males > females
• 90% sporadic and 10% familial
• Sporadic MND peaks at 50-75 y/o

Question 7

Aetiology of MND?

Answer 7

Thought to be links with some genes such as
-C90RF72 gene
(which is linked to FTD suggesting conditions are interlinked)

Question 8

Which MND is least common in non-Caucasians?

Answer 8

ALS

Question 9

How does MND present?

Answer 9

• Muscle weakness and potentially problems with speech, swallow and breathing
• Upper and/or lower motor neurone signs without sensory problems
• Focal onset and continuous spread, finally generalized paresis
• Cognitive impairment

Question 10

What are upper motor neurone signs?

Answer 10

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

Question 11

Lower motor neurone signs?

Answer 11

• Muscle wasting
• Weakness
• Fasciculations
• Absent or reduced deep tendon reflexes
• Muscle cramps
• Muscle hypotonicity

Question 12

What is bulbar dysfunction?

Answer 12

Affects tongue muscles, facial muscles and pharyngeal muscles

Question 13

What is spinal dysfunction?

Answer 13

• Variable
• Muscle wasting
• Loss of tone or contractures
• Consider: washing, dressing and feeding
• Mobility aids/hoists often necessary

Question 14

Presentation of ALS?

Answer 14

• Flail arm syndrome
• Flail leg syndrome
• Focal distal spinal muscular dystrophy
• Kennedys disease (SMA Variant)

Question 15

Presentation of emotional lability?

Answer 15

Inappropriate crying or laughing

Sometimes treated with anti-depressants

Question 16

Types of MND?

Answer 16

• PLS: Primary Lateral Sclerosis
• ALS: Amyotrophic Lateral sclerosis
• PMA: Progressive muscular atrophy
• PBP: Progressive bulbar palsy:

Question 17

What is PLS?

Answer 17

Primary Lateral Sclerosis
- UMN variant
- 1-3% of MND cases (less common)
- Good survival (>5 years)

Question 18

What physiologically is PLS?

Answer 18

-Confined to UMN causing a slow progressive tetraparesis and pseudobulbar palsy

(Tetraparesis: 4 limbs muscle weakness)

Question 19

What is ALS?

Answer 19

• Most common MND phenotype
• Upper and lower motor neurone features
• Poor survival (median 3-5 years)
• Muscle wasting and fasciculations
• Brisk reflexes

Question 20

Presnetation of ALS?

Answer 20

Progressive Focal Muscle Weakness
- Muscle twitching
-Weakness in arm
-Wasting with muscle fasciculations due to spontaneous firing of abnormality large motor units formed by surviving axons branching to innervate muscle fibres that have lost their nerve supply

Question 21

Initial presentation of ALS?

Answer 21

Weakness often starts in one limb and the spreads to other parts of body

-Cramps are common

Question 22

What is PMA?

Answer 22

Progressive muscular atrophy

• Pure LMN presentations
• 10% of MND cases (Rare)

Question 23

Presnetation of PMA?

Answer 23

• Weakness
• Muscle wasting
• Fasciculations that start in one limb and spread

Question 24

What is progressive bulbar palsy?

Answer 24

• 1-2% MND cases
• Women > men (60-80 y/o)
• Limbs are preserved but symptoms in mouth

Question 25

Mixed UMN and LMN but confined to the mouth is?

Answer 25

Progressive Bulbar Palsy

Question 26

Progressive bulbar palsy mouth symptoms?

Answer 26

- Bulbar and wasted tongue - Affected speech - Tongue fasciculations with slow stiff tongue movements - Choking - Nasal regurgitation - Dysarthria - Dysphagia

Question 27

Therapeutic interventions in progressive bulbar palsy?

Answer 27

- Early communicator - Nutritional support - Care for respiratory tract

Question 28

How is MND diagnosed?

Answer 28

- Electrophysiology | - ALS: EI Escorial criteria

Question 29

How is MND treated?

Answer 29

-Access to specialist MND services

Question 30

Treatment plans of MND?

Answer 30

- Keyworker assessing needs and coordination of care - Communication needs - Nutritional needs - Resp needs - Riluzole - Muscle cramps/spasms

Question 31

Drug treatment for muscle cramps?

Answer 31

Quinine | Baclofen

Question 32

Drug treatment for muscle spasms?

Answer 32

Baclofen Tizanidine Dantrolene Gabapentin

Question 33

what are the consequences of respiratory dysfunction?

Answer 33

- Weakness of resp muscles is one of the main causes of death in MND - Resp management from diagnosis is vital

Question 34

MND Resp red flags?

Answer 34

``` Breathlessness Orthopnoea Recurrent chest infection Disturbed sleep Non-refreshed sleep Nightmares Daytime sleepiness Poor concentration ```

Question 35

When is non-invasive ventilation offered in resp dysfunction?

Answer 35

To support T2 Resp failure

Question 36

Prognosis of MND?

Answer 36

3 years after symptom onset

Question 37

Presentation of MND?

Answer 37

- Functional effects of muscle weakness eg loss of dexterity, falls or trips - Speech/swallowing problems or tongue fasciculations - Muscle problems: weakness, wasting, twitching, cramps, stiffness - Breathing Problems: SOB, resp symptoms - XSive daytime sleepiness, fatigue, early morning headache, SOB lying down - Cognitive symptoms: Frontotemporal dementia, behavioural changes and emotional lability - UMN and or LMN signs on examination

Question 38

Diagnosis of MND?

Answer 38

Largely clinical | -No specific diagnostic tests but investigations can exclude other conditions

Question 39

What does an EMG confirm? And what is that?

Answer 39

-Electromyography | Denervation of muscles due to degeneration of LMN

Question 40

How long do most MND survive?

Answer 40

Most cases don't survive past 3 years but some variants do better than others

Question 41

What drug slows progression of MND?

Answer 41

Riluzole

Question 42

What is riluzole?

Answer 42

Na+ channel blocker | -Inhibits glutamate release and slows progression slighlty by 3-4 months

Question 43

Is riluzole popular?

Answer 43

NO | -Extra time added to life tends to be when you are most disabled

Question 44

WHat is increased in MND?

Answer 44

Metabolic rate (wt loss expected)

Question 45

What treats muscle spasms?

Answer 45

Baclofen

Question 46

Management of MND?

Answer 46

- MDT approach - Communication aids - Dietician advice - Gastrostomy - Physiotherapy - Baclofen for muscle spasms - Non-invasive ventilatory support- BiPAP at night