Motor Neuron Disease - Sachen

Question 1

Motor neuron disease is characterized by what symptoms?

Do NOT see what symptoms?

Answer 1

• Progressive wasting
• Weakness
• Sensory changes
• Cerebellar changes
• Mental changes

Question 2

Polio - causes what?

Answer 2

PATCHY destruction of various anterior horn cells

Question 3

Acid maltase deficiency

Answer 3

Destruction of anterior horn cells

Question 4

Most common adult motor neuron disease?

Affects what cells?

Answer 4

Amyotrophic lateral sclerosis

Pyramidal cells (UMNs)
***Anterior horn (LMNs)
Lower cranial nerve nuclei
***Corticospinal tracts (Lateral, Ventral)
Corticobulbar tracts

Question 5

Progressive bulbar palsy – affects what cells?

Answer 5

Lower cranial nerve nuclei and associated nerves

Question 6

Spinal muscular atrophy – affects what cells?

Answer 6

Anterior horn cells

Question 7

Primary lateral sclerosis – affects what cells?

Answer 7

Corticospinal tracts

Question 8

Monomelic amyotrophy – what is it?

2 types

Answer 8

Muscle weakness and atrophy of only ONE limb

• Upper extremity (Hirayama)
• Lower extremity

Question 9

How are adult motor neuron diseases distinguished? (2)

Answer 9

• Distribution (limb and/or bulbar)

- Upper and/or lower motor neuron

Question 10

What does “Amyotrophic Lateral Sclerosis” mean?

Answer 10

Amyotrophic = without muscle nourishment (innervation)

Lateral = side of cord

Sclerosis = hardening/scaring

Question 11

ALS - age of onset?

Sporadic or familial?

Answer 11

20-60 (usually young adult)

Sporadic (95%)

Question 12

ALS - presentation

Answer 12

• Gait disorder, limb weakness, speech/swallowing difficulty
• Weight loss (lost muscle), cramps, fasciculations
• Tongue atrophy and fasciculations

Question 13

ALS - neuro exam findings

Answer 13

Mixed upper (spasticity, hyperreflexia, Babinski) and lower (atrophy, fasciculations) neuron signs

Question 14

Whenever you see ___ and ___ motor neuron signs in a limb, think ALS

Answer 14

Upper AND Lower

Question 15

5 “Rule of Thumb” Diagnostic NEGATIVES for ALS

Answer 15

• No sensory symptoms
• Normal mentation/thinking
• No EOM issues
• No autonomic issues
• No decubiti/ulcers

Question 16

Progression and Prognosis of ALS

Answer 16

• Relentlessly progressive w/o remissions

- Death (w/in 4 yrs) – respiratory failure, aspiration pneumonia, PE

Question 17

ALS - treatment

Answer 17

Supportive for symptoms

Question 18

Progressive bulbar palsy - presenting symptoms (4)

Progression?

Answer 18

• Dysarthria
• Dysphagia
• Chewing issues
• Respiratory difficulty

ALS (generalized involvement)

Question 19

Spinal Muscular Atrophy - presentation? (3)

Does NOT include what?

Presents when?

Progression?

Answer 19

• Weakness
• Atrophy
• Respiratory difficulty

NO UMN involvement

64 (average)

Rarely to ALS - better life expectancy

Question 20

Primary lateral sclerosis - presentation? (4)

Affects mostly what?

Presents when?

Progression?

Answer 20

• Weakness
• Spasticity
• Hyperreflexia
• Babinski

UMN (corticospinal tracts)

50-55

Question 21

Hypotonic baby, poor reflexes, poor suckling, breathing difficulty, death in 6-12 months

Answer 21

Infantile SMA (Werdnig-Hoffman disease)

Question 22

Adolescent/young adult, hypotonia, poor reflexes, breathing difficulty, atrophy

Answer 22

Juvenile SMA (Kugelberg-Welander disease)