Motor Neurone Disease

Question 1

What is the commonest MND in adults?

Answer 1

ALS- lou Gehrig’s disease

Question 2

How does MND present?

Answer 2

Problems with speech, swallow and breathing

Upper and/or lower MD signs without sensory problems

Question 3

Describe the progression of MND?

Answer 3

Focal onset and continuous spread, finally generalised paresis

Question 4

What is the median survival after symptom onset?

Answer 4

3 years

Question 5

90% of MND is ______

Answer 5

90% of MND is sporadic

Question 6

A genetic aetiology has been identified in up to __% of sporadic and __% of genetic familial cases

Answer 6

A genetic aetiology has been identified in up to 20% of sporadic and 60% of genetic familial cases

Question 7

Sporadic MND peaks at the ages of __-__ years and declines after age __

Answer 7

Sporadic MND peaks at the ages of 50-75 years and declines after age 80

Question 8

ALS is less common in which population?

Answer 8

Non-caucasuan populations

Question 9

What is included in MND?

Answer 9

Amyotrophic Lateral Sclerosis
Progressive muscular atrophy
Progressive bulbar palsy
Primary lateral sclerosis

Question 10

List the UMN signs in MND

Answer 10

Increased tone
Hyper-reflexia
Extensor plantar gait
Exaggerated Jaw-jerk
Slows movements

Question 11

List the LMN signs in MND

Answer 11

Muscle wasting
Weakness
Fasciculations
Absent or reduced deep tendon reflexes

Question 12

What percentage of patients have primary bulbar onset MND? Which gender and age is affected?

Answer 12

25%

Women > Men (60-80)

Question 13

What is the prognosis of primary bulbar MND?

Answer 13

Generalisation into ALS

Question 14

What are the therapeutic interventions for primary bulbar ALS?

Answer 14

Early communicator
Nutritional support
Care for URT

Question 15

What is affected by bulbar dysfunction?

Answer 15

Tongue muscles, facial muscles and pharyngeal muscles

Question 16

What is seen in spinal dysfunction in NMD?

Answer 16

Muscle wasting

Loss of tone or contractures

Question 17

What is split hand syndrome?

Answer 17

Preferential wasting of the thenar group is typical in ALS

Wasting of first dorsal interosseous and abductor policies brevis and preservation of abductor digits minimi

Question 18

What are the ALS variants with more benign prognosis?

Answer 18

Flail arm syndrome
Flail leg syndrome
Primary Lateral Sclerosis
Focal distal spinal muscular dystrophy
Kennedy’s disease (SMA variant)

Question 19

What is the pathology of MND?

Answer 19

Motor neurone degeneration and death

Question 20

What is the investigation for NMD?

Answer 20

Electrophysiology

Question 21

Describe clinically definite ALS

Answer 21

Upper and lower motor neurone signs in bulbar and at least two spinal (lumbosacral, thoracic, or cervical) regions
OR
Upper and Lower motor neurone signs in three spinal regions

Question 22

Describe clinically probable ALS

Answer 22

Upper and lower motor neurone signs in at least two regions (bulbar or spinal) with some upper motor neurone signs rostral to the lower motor neurone signs

If lab supported= EMG findings of lower motor neurone involvement in at least two body regions

Question 23

What are frequent misdiagnosis of MND?

Answer 23

Carpal tunnel syndrome, stroke, neuropathy

Question 24

What are frequent false positive diagnosis of MND?

Answer 24

Multifocal motor neuropathy, Kennedy’s disease, myopathy (inclusion body myopathy), cervical spondylotic radiculomyelopathy

Question 25

Describe on-going management in MND?

Answer 25

- Key worker assessing needs & coordination of care - Communication needs (Speech therapy, technology from tablets to ‘voice banking’) - Nutritional needs (dieticians, gastrostomy) - Respiratory needs (assessment, Home ventilation) - Riluzole

Question 26

What is riluzole?

Answer 26

Riluzole delays the onset of ventilator-dependence or tracheostomy in some people and may increase survival by two to three months

Question 27

Why is nutrition important in MND?

Answer 27

Metabolic need is doubled | A weight loss of >10% at diagnosis is a poor survival indicator

Question 28

How should nutrition be managed?

Answer 28

1. give small high energy supplements regularly 2. consideration of upper limb (hand to mouth action) is important, carers may need to help 3. early insertion of gastrostomy tubes should be clinical priority

Question 29

What variations of gastrostomy can be used?

Answer 29

PEG- Percutaneous endoscopic gastrostomy RIG- Radiologically Inserted Gastrostomy PIGG- per-oral image guided gastrostomy NG- Nasogastric tube

Question 30

What is sialorrhoea?

Answer 30

Hypersalivation

Question 31

What are the treatment options for sialorrhoea?

Answer 31

- Hyoscine/Buscopan - Glycopyrronium (especially if cognitive impairment) - Botox - Suction/Humidification/Carbocisteine

Question 32

What are the treatments for muscle cramps?

Answer 32

Quinine | Baclofen

Question 33

What are the treatments for muscle spasms?

Answer 33

Baclofen Tizanidine Dantrolene Gabapentin

Question 34

What are the red flags of respiratory failure

Answer 34

``` Breathlesness Orthopnea Recurrent chest infection Disturbed sleep Non-refreshed sleep Nightmares Daytime sleepiness Poor concentration ```

Question 35

What means of non-invasive ventilation can be used?

Answer 35

BiPAP mask | Commenced at night initially and gradually increases

Question 36

What are the symptomatic treatments for SOB/anxiety?

Answer 36

Lorazepam

Question 37

What are the symptomatic treatments for coughing?

Answer 37

Breath stacking | Cough assist

Question 38

What is breath stacking?

Answer 38

Sit upright in a comfortable position Take a deep breath in and hold it Try to take another deep breath in on top of the previous breath Aim to take another 1-3 breaths in the same way (3-5 breaths in total) Breathe out or cough Repeat this process 3-5 times

Question 39

What must be up to date to withdraw NIV?

Answer 39

DNACPR, AWI, POA

Question 40

What is emotional lability?

Answer 40

Inappropriate crying or laughing Part of UMN signs Sometimes treated with antidepressants

Question 41

What percentage of MND patients have cognitive impairment?

Answer 41

50%