Motor Neuron Disease

Question 1

simply, what is the underlying pathology

Answer 1

degeneration of motor neurons

Question 2

is MND progressive?

Answer 2

yes

Question 3

does MND involve upper or lower motor neurons

Answer 3

both

Question 4

how does the MND usually start

Answer 4

combination of UMN and LMN signs and symptoms in 1 neuroaxis of the body which then generalises relentlessly to involve other areas

Question 5

describe the nature of disease progression

Answer 5

relentless

Question 6

how does someone with MND usually die

Answer 6

often from respiratory failure

Question 7

what is the female male distribution

Answer 7

<70, males>females

>70, males: females

Question 8

is there a genetic influence?

Answer 8

90% of cases are sporadic

10% familial

Question 9

name one high penetrance mutation

Answer 9

C9orf72

Question 10

which motor neurons are affected in amyotrophic lateral sclerosis

Answer 10

those in the anterior horn and motor cortex - UMN and LMN findings

Question 11

which clinical sign is classical of ALS

Answer 11

split hand sign - disproportionate wasting of the thenar musccles with relatively preserved hypothenar eminence

Question 12

onset in which group of motor neurons confers a worse prognosis for ALS

Answer 12

bulbar onset

Question 13

which motor neurons does progressive bulbar palsy effect

Answer 13

only CNIX-XII in the medulla –> LMN signs

Question 14

what are some clinical signs of bulbar palsy

Answer 14

fasciculating tongue, absent or normal jaw jerk, speech problems - quiet, nasal, hoarse

Question 15

what is another name for corticobulbar palsy

Answer 15

pseudobulbar palsy

Question 16

which motor neurons does pseudobulbar palsy affect

Answer 16

the corticobulbar tracts - from cerebral cortex to nuclei of CN in brain stem

Question 17

how does corticobulbar palsy present

Answer 17

UMN signs in CN - swallowing and talking

• increased jaw jerk; slow tongue movemets; slow, deliberate speech

Question 18

which motor neurons does primary lateral sclerosis effect

Answer 18

cells in the motor cortex - mainly UMN signs

Question 19

how does PLS present

Answer 19

UMN signs mainly

marked spastic leg weakness

pseudobulbar palsy

Question 20

which motor neurons does progressive muscular atrophy effect

Answer 20

anterior horn cells only - no UMN signs

Question 21

how does progressive muscular atrophy present

Answer 21

progressive weakness atrophy and fasciculations

Question 22

which muscle groups does progressive muscular atrophy effect first

Answer 22

distal then proximal muscles

Question 23

how is dementia related

Answer 23

fronto temporal dementia occurs in around 25% pt

Question 24

what drug is available to modify disease course

Answer 24

Riluzole