Motor Neurone Disease

Question 1

The most common subtype of MND is ALS - this comprises what features?

Answer 1

Muscle wasting, LMN degeneration and corticospinal tract degeneration

Question 2

There is a spectrum of different clinical phenotypes of MND. What diseases are at either end?

Answer 2

Frontotemporal dementia up to ALS (can present anywhere in between these two)

Question 3

Which gender is slightly more affected by MND? Is it more likely to be sporadic or familial?

Answer 3

Males/ 10% familial, 90% sporadic

Question 4

Sporadic MND peaks at what age? What ethnicity is it more common in?

Answer 4

50-75 / Caucasian

Question 5

What are the 3 main risk factors for MND?

Answer 5

Aged > 50, male gender, positive Fx

Question 6

Describe the onset and spread of symptoms of MND?

Answer 6

Usually focal onset (90% in a single limb) with continuous spread over months-years ending in generalised paralysis

Question 7

Name some UMN signs that may be seen in MND?

Answer 7

Hyper-reflexia, increased tone, spastic gait, slowed movements

Question 8

Name some LMN signs that may be seen in MND?

Answer 8

Muscle wasting, weakness, fasciculations, reduced/absent reflexes

Question 9

What is split hand syndrome?

Answer 9

Wasting of the thenar group, with relative sparing of the hypothenar group

Question 10

What are the 3 areas of onset of MND from most to least common?

Answer 10

Extremities (70%), bulbar (25%), thoracic (2%)

Question 11

Bulbar lesions affect which cranial nerves?

Answer 11

IX, X, XI, XII

Question 12

People with thoracic onset MND tend to present to where first and why?

Answer 12

They present to respiratory or cardiology with difficulty breathing

Question 13

Is MND more likely to present with UMN or LMN features?

Answer 13

LMN

Question 14

As well as upper and lower motor neurone features, what else can MND present with?

Answer 14

Frontal/cognitive deficits

Question 15

What is the most common MND phenotype? This can be classified depending on where problems first occur - what are the main types?

Answer 15

Amyotrophic lateral sclerosis (ALS) / limb onset or bulbar onset

Question 16

Typically, ALS presents how?

Answer 16

Progressive weakness and wasting of the limbs

Question 17

What underpins the link between ALS and FTD?

Answer 17

C9ORF hexanucleotide repeat expansions

Question 18

Who is progressive bulbar palsy most likely to present in?

Answer 18

Women > men, usually 60-80 years old

Question 19

How does progressive bulbar palsy present?

Answer 19

Problems with speech and swallowing

Question 20

How does progressive bulbar palsy progress?

Answer 20

It will progress into generalised disease eventually, but patients often die before this from complications e.g. aspiration pneumonia

Question 21

What are some therapeutic interventions for progressive bulbar palsy?

Answer 21

Early communicator, nutritional support and upper respiratory care

Question 22

What happens in progressive muscular atrophy?

Answer 22

Causes isolated LMN degeneration, mainly in distal muscles

Question 23

What happens in primary lateral sclerosis?

Answer 23

Causes corticospinal tract degeneration, causing only UMN signs

Question 24

What are some investigations that can be used for MND?

Answer 24

All patients get neurophysiological studies and an HIV test, some get MRI brain and spinal cord

Question 25

What is riluzole?

Answer 25

The only approved medication to alter disease progression in MND

Question 26

What effect doe riluzole have?

Answer 26

Increases survival by a few months

Question 27

What is the general prognosis of MND?

Answer 27

Relentlessly progressive condition, with most patients dying within 3-5 years of symptom onset

Question 28

Which type of MND has the best prognosis?

Answer 28

Progressive muscular atrophy

Question 29

Which type of MND has the worst prognosis?

Answer 29

Progressive bulbar palsy