Motor neurone disease

Question 1

typically LMN signs in arms and UMN signs in legs
in familial cases the gene responsible lies on chromosome 21 and codes for superoxide dismutase

Answer 1

Amyotrophic lateral sclerosis

Question 2

UMN signs only

Answer 2

Primary lateral sclerosis

Question 3

LMN signs only
affects distal muscles before proximal
carries best prognosis

Answer 3

Progressive muscular atrophy

Question 4

palsy of the tongue, muscles of chewing/swallowing and facial muscles due to loss of function of brainstem motor nuclei
carries worst prognosis

Answer 4

Progressive bulbar palsy

Question 5

Which MND subtype carries the worst prognosis

Answer 5

Progressive bulbar palsy

Question 6

In familial cases of ALS, the gene responsible lies on chromosome 21 and codes for

Answer 6

superoxide dismutase

Question 7

Features pointing towards MND

Answer 7

asymmetric limb weakness
UMN + LMN
Fasciculations
Absence of sensory signs

Question 8

Are there sensory signs in MND

Answer 8

No

Question 9

Other features of MND

Answer 9

doesn’t affect external ocular muscles

Question 10

What will help differentiate MND from neuropathy

Answer 10

No sensory signs + normal nerve conduction studies

Question 11

Important ddx to exclude

Answer 11

MRI is usually performed to exclude the differential diagnosis of cervical cord compression and myelopathy

Question 12

Management

Answer 12

Riluzole
BiPAP
PEG

Question 13

Prognosis

Answer 13

50% die within 3 years