MND

Question 1

Classic MND (or ALS)

Answer 1

Loss of motor neurones in motor cortex and the anterior horn of the cord.
Weakness
UMN signs
LMN wasting/fasciculations

Question 2

Progressive Muscular Atrophy (PMA)

Answer 2

Anterior horn cell lesion only (no UMN signs)

Affects distal muscle groups before proximal

Question 3

Primary Lateral Sclerosis

Answer 3

Loss of Betz cells in motor cortex
UMN signs
Marked spastic leg weakness
Pseudobulbar palsy

Question 4

Progressive Bulbar Palsy

Answer 4

Only affects CN IX - XII
LMN lesion of the tongue and muscles of talking and swallowing:

Flaccid, fasciculating tongue
Jaw jerk normal or absent
Speech quiet, hoarse or nasal.

Question 5

Corticobulbar Palsy (pseudobulbar palsy)

Answer 5

UMN lesion of muscle of swallowing and talking - bilateral lesions above the mid-pons e.g. cortcobulbar tracts (MS, MND, stroke).

Commoner than bulbar palsy.

Signs:
Slow tongue movements, slow deliberate speech.
Increased jaw reflex
Pseudobulbar affect (PBA) - weeping unprovoked, incongruent giggling.

Question 6

El Escorial Diagnostic Criteria for ALS

Answer 6

Definite: UMN + LMN signs in 3 regions
Probable: UMN + LMN signs in 2 regions
Possible: UMN + LMN signs in 1 region
Suspected: UMN or LMN signs in ≥ 1 regions.

Question 7

MND genetics

Answer 7

TDP 43 pathological signature in 95% of cases.