Motor Neurone Disease

Question 1

what is motor neurone disease?

Answer 1

untreatable and rapidly progressive neurodenegerative condition

Question 2

how is motor neurone disease diagnosed?

Answer 2

clinically

Question 3

what are symptoms of MND?

Answer 3

muscle weakness and potentially problems with speech, swallow and breathing

Question 4

what is the onset and progression of MND?

Answer 4

focal onset and continuous spread, finally generalised paresis

Question 5

what is most common subtype of MND?

Answer 5

amyotrophic lateral sclerosis (ALS) - mixed upper and lower signs

also known as Lou Gehrigs disease

Question 6

what is median survival of MND after symptom onset?

Answer 6

3 years

Question 7

the incidence of MND is decreasing - true or false?

Answer 7

false - it is increasing

Question 8

MND is slightly more common in what gender?

Answer 8

male

Question 9

what is cause of MND?

Answer 9

90% sporadic

10% familial

Question 10

sporadic MND peaks what which age?

Answer 10

50 and 75 - then declines after age of 80

Question 11

ALS is less common in what population?

Answer 11

non-caucasian

Question 12

what is PLS?

Answer 12

rare form of MND - problem with upper motor neurone

Question 13

what is PMA?

Answer 13

another rare form of MND - problem with lower motor neurone

Question 14

65% of patients present with spinal / limb onset. What else could patients present with?

Answer 14

bubar onset
cognitive onset
respiratory onset

Question 15

90% of MND patients have abnormality in what protein?

Answer 15

tdp-43

Question 16

what are 4 types of motor neurone disease?

Answer 16

PLS - primary lateral sclerosis
ALS - amyotrophic lateral sclerosis
PBS - progressive bulbar palsy
PMA - progressive muscular atrophy

Question 17

what is median survival of ALS?

Answer 17

3-5 years

Question 18

what is median survival of PLS (1-3% of cases)?

Answer 18

good (>5 years)

Question 19

what is median survival of PMA (10% of cases)?

Answer 19

variable

Question 20

what are upper motor neurone signs?

Answer 20

increased tone 
hyper reflexia 
extensor plantar responses 
spastic gait 
exaggerated jaw jerk 
slow movements

Question 21

what are lower motor neurone signs?

Answer 21

muscle wasting
weakness
fasciculations
absent or reduced tendon reflexes

Question 22

what signs may you see when you examine someone with MND?

Answer 22

extremities (70%) (upper > lower)
bulbar (25%)
thoracic (2%)

upper motor neurone (10%)
lower motor neurone (90%)

cognitive problems (5%)

MND katabolism (40-50%)

Question 23

what is therapeutic interventions of bulbar variant MND?

Answer 23

early communicator
nutritional support
care for URT

Question 24

what does bulbar dysfunction affect?

Answer 24

tongue muscles, facial muscles and pharyngeal muscles

Question 25

what symptoms can occur in upper and lower limbs?

Answer 25

wasting (either global or split hand syndrome) loss of tone or contractures

Question 26

what gene is associated with frontotemporal dementia?

Answer 26

C9orf72

Question 27

what are ALS variants with more benign prognosis? note - these are not classified as MND

Answer 27

``` flail arm syndrome flail leg syndrome primary lateral sclerosis focal distal spinal muscular dystrophy kennedy disease (SMA variant) ```

Question 28

what investigation can take place in MND to confirm diagnosis?

Answer 28

electrophysiology + clinical findings

Question 29

what is the pathology of MND?

Answer 29

motor neurone degeneration / death

Question 30

what is name of criteria used to diagnose ALS?

Answer 30

el escorial criteria

Question 31

ALS is a diagnosis of exclusion - true or false?

Answer 31

true

Question 32

what is riluzole?

Answer 32

drug which can be given in end stages of MND to prolong life for 3 months

Question 33

what are other interventions in MND?

Answer 33

communication needs = speech therapy, technology from tablets nutritional needs = dieticians, gastrostomy respiratory needs (assessment, home ventilation)

Question 34

what is the average time from symptom onset to diagnosis?

Answer 34

12 months

Question 35

who is in a MND team?

Answer 35

1 consultant and 2 nurse specialist delivering care and advice at home and at clinic

Question 36

how often are patients MND patients assessed?

Answer 36

4-6 weeks - not always in person, can do phone and email

Question 37

what happens to metabolic rate in MND?

Answer 37

it is doubled - weight loss expected

Question 38

what is symptomatic treatment for muscle cramps?

Answer 38

quinine | baclofen

Question 39

what is symptomatic treatment for muscle spasms?

Answer 39

``` baclofen tizanidine dantrolene gabapentin medicinal cannabis ```

Question 40

what is one of the main causes of death in MND?

Answer 40

weakness of respiratory muscles

Question 41

what is offered to support type 2 respiratory failure?

Answer 41

non-invasive ventilation - BiPAP mask, commenced at night and gradually increased depending on need

Question 42

what is symptomatic treatment for SOB / anxiety?

Answer 42

lorazepam

Question 43

what are symptomatic treatment for coughing?

Answer 43

breath stacking | cough assist

Question 44

what is the symptomatic treatment for sialorrhoea?

Answer 44

hycosine / buscopan glycopyrronium (esp if cognitive impairment) botox suction / humidification / carbocisteine

Question 45

what is symptomatic treatment for malnutrition?

Answer 45

supplements / thickeners liquid drug preparations

Question 46

what are the red flag signs of respiratory failure?

Answer 46

``` breathlessness orthopnea recurrent chest infection disturbed sleep non-refreshed sleep nightmares daytime sleepiness poor concentration ```

Question 47

what % of MND patients may have cognitive impairment?

Answer 47

50 - spectrum from mild to dementia

Question 48

what type of dementia is MND associated with?

Answer 48

frontotemporal apathy, disinhibition, poor planning / decisions