38 Motor Neuron DIsease

Question 1

Biopsy of LMN disease?

Answer 1

atrophic fibers + fiber grouping (↓# Motor Units)

Question 2

Werdnig-Hoffman:

Age of onset?

Answer 2

infantile (AR)

Question 3

Werdnig-Hoffman:

Signs/symptoms?

Answer 3

• Atrophy
• ↓tone
• ↓reflexes
• +fasciculations (tongue)
• poor suck reflex
• Frog Leg Posture (abducted hips from weakness)

Question 4

Werdnig-Hoffman:

EMG?

Answer 4

muscle denervation + fasciculations

Question 5

Werdnig-Hoffman:

Biopsy?

Answer 5

group muscle fiber atrophy

Question 6

Wohlfart Kugelberg Welander:

Signs/symptoms?

Answer 6

• fasciculations
• arm hyperpronation
• atrophy of pectoralis + thigh muscles
• prox musc weakness

Question 7

Wohlfart Kugelberg Welander:

Labs/Biopsy?

Answer 7

• normal CK (not myopathy)

- fiber denervation

Question 8

Wohlfart Kugelberg Welander:

Age of onset?

Answer 8

juvenile

Question 9

Spinal Muscular Atrophy:

Genetic abn?

Answer 9

loss of SMN1; phenotype determined by loss of SMN2

Question 10

What determines severity of Spinal Muscular Atrophy?

Answer 10

↑Copies of SMN2 (↓severity = Juvenile)

Question 11

What is ALS?

Answer 11

• progressive loss of LMN in spinal cord/ brainstem

- UMN projecting into CST

Question 12

Etiology of idiopathic ALS?

Answer 12

↑Glutamate: too much excitement = degeneration

Question 13

Etiology of hereditary ALS?
• Familial
• Juvenile
• w/FTD
• MCC

Answer 13

• Familial: AD xSuperoxide Dis Gene (GOF Ch. 21)
• Juvenile: Gene Mutation (Ch. 9)
• w/FTD: Gene Mutation (Ch. 17)
• MCC: Ch. 9 C90RF72 Expansion

Question 14

Amyotrophic Lateral Sclerosis:

Gross path?

Answer 14

lack of myelin (pale) in CST + loss of anterior horn neurons

Spinal Cord Section

Question 15

ALS:

Micro path?

Answer 15

Bunina Body: ↑eosinophilic inclusion bodies in anterior horn cell neurons (↑ubiquitin)

Question 16

ALS:

LMN signs?

Answer 16

• weak, atrophic muscles (early = distal)
• tongue atrophy
• fasciculations

Question 17

ALS:

UMN signs?

Answer 17

• weakness
• ↑reflexes
• spastic (↑tone)
• Babinski+

Question 18

ALS:

Sensation?

Answer 18

nml

Question 19

ALS:

Cause of death?

Answer 19

difficulty swallowing + breathing

Question 20

ALS:

Diagnosis?

Answer 20

MRI, EMG, Standard Neuro Exam

**MRI: Rule Out Spondylosis

Question 21

ALS:

Trx?

Answer 21

1. Glutamate Antagonist (Riluzole)
2. Symptomatic Treatment
   - Anti-chol/Botulinum Toxin (↓excess salivtn from ↓swallowing)
   - Bracing (Foot-drop)
   - Gastrostomy
   - Resp Assistance (once depr develops)

Question 22

Progressive bulbar palsy affects:

Answer 22

muscles innervated by the medulla neurons

Question 23

Progressive bulbar palsy causes:

Answer 23

tongue and palate weakness (rapidly progressing)

Question 24

Progressive lateral sclerosis affects:

Answer 24

primarily the upper motor neurons with little atrophy or signs of denervation

Question 25

Progressive lateral sclerosis causes:

Answer 25

• Hyperreflexia
• spasticity
• *~benign form of ALS

Question 26

Progressive spinal musc atrophy causes:

Answer 26

• progressive weakness + atrophy
• fasciculations
• areflexia