(38) Motor Neuron Diseases

Question 1

Spinal motor atrophy is called ___ in…
infants
juveniles
adults

Answer 1

infants = Werdnug-hoffman
juveniles = Wolfkart-Kugelberg
adults = adult onset spinal muscle atrophy

Question 2

pediatric spinal motor atrophy is usually (sporadic, AR, AD) and adult onset is usually (sporadic, AR, AD)

Answer 2

kids = AR
adults = sporadic

Question 3

mutation assc with Werdnug-hoffman? Wolfkart-Kugelberg

Answer 3

5q; absent SNM1

**size of SNM2 determines if see neonatal or juvenile form

Question 4

spinal motor atrophy presents with (proximal or distal) weakness

Answer 4

proximal

Question 5

spinal motor atrophy affects UMN or LMN

Answer 5

LMN

*fasiculations, hypotonia

Question 6

pathophys of spinal mortor atrophy

Answer 6

anterior horn cells die leading to denervation

Question 7

adult motor neuron disease that may progress to ALS

Answer 7

progressive bulbar palsy and progressive lateral sclerosis

Question 8

tongue and palate weakness/atrophy

Answer 8

presentation of bulbar palsy or ALS

Question 9

adult motor neuron disease that primarily affect UMN (little sign of atrophy or denervation)

Answer 9

progressive lateral sclerosis

Question 10

pts with this may present with LMN lesion signs in upper limbs and UMN lesion signs in lower limbs

Answer 10

cervical spondylosis = protruding discs
*upper limb = nerve root compression
lower limb = compression of spinal cord and corticospinal tracts

Question 11

anterior horn cell histo that suggests ALS

Answer 11

de-myelination, Bunina eosinophillic inclusions (ubiquitin accumulations)

Question 12

etiology of ALS

Answer 12

most commonly SOD mut on chrom 21

familial ALS without FTD = expansion on chrom 9 of C90RF72 gene

Question 13

likely cause of neuronal degeneration in ALS

Answer 13

glutamate mediated excitotoxicity secondary to free radical injury of neurons

Question 14

what is the treatment for ALS

Answer 14

Riluzole (glutamate antagonist)

+ symptomatic relief (botox to dec drooling, stool softeners, anti-depressants, bracing)

Question 15

ALS muscle weakness is usually first seen

Answer 15

in the hands

Question 16

ALS preserves

Answer 16

sensory, bladder and bowel function