Motor Neurone disease

Question 1

What is a red flag?

Answer 1

Painless, progressive weakness

Question 2

What is the survival with MND?

Answer 2

3 YEARS

Question 3

What percentage is familial and what is sporadic?

Answer 3

10% familial

90% sporadic

Question 4

Sporadic means there is no genetic underpinning TRUE/FALSE

Answer 4

FALSE

It just means there is no FHx of it

Question 5

Name the familial gene mutation that has been identified?

Answer 5

Mutation of the protein superoxide dismutase identified on chromosome 21

Question 6

In what repeat expansion is ALS and frontotemporal dementia both occurring?

Answer 6

C90RF hexanucleotide repeat expansion

Question 7

I am MND

Answer 7

50-75yo
men>women
Caucasians >non-caucasions

Question 8

Clinical features of MND

Answer 8

Muscle weakness with potentially problems with speech, swallow and breathing
UMN/LMN without sensory problems
Focal onset and continuous spread until generalise paralysis

Question 9

Kennedy’s disease is a type of MND TRUE/FALSE

Answer 9

FALSE

But it does have similar symptoms

Question 10

What is split hand syndrome?

Answer 10

Wasting of FDI and APB

Preservation of ADM

Question 11

What are the 4 places of primary onset?

Answer 11

Spinal/limb onset
Bulbar onset
Cognitive onset
Respiratory onset

Question 12

Who is bulbar onset of MND more common in?

Answer 12

Women

Question 13

How does bulbar onset present?

Answer 13

Dysarthria, Dysphagia and chocking sensation

Question 14

TRUE/FALSE

There is a link between ALS and frontotemporal dementia

Answer 14

TRUE

Question 15

What is the diagnostic criteria for ALS?

Answer 15

Diagnosis of exclusion
...but...
UMN & LMN signs in bulbar and signs in 2+ spinal regions
OR
Signs in 3+ spinal regions

Question 16

What is progressive muscular atrophy?

Answer 16

Variant of MND presenting as purely LMN pathology

Question 17

What is primary lateral sclerosis?

Answer 17

Least common phenotype of MND

Presents purely with UMN signs

Question 18

What is the most common cause of death in MND?

Answer 18

Respiratory failure (due to respiratory muscle weakness)

Question 19

What drug can be used to extend life by 3 months?

Answer 19

Riluzole (blocks glutaminergic neurotransmission in CNS)