Motor Neuron Disease

Question 1

What makes up a motor unit

Answer 1

• motor neurons
• motor axons
• the muscle fibers they inervate

Question 2

Infantile Spinal Muscular Atrophy also called

Answer 2

Werdnig- Hoffman

Question 3

Infantile SPinal Muscular Atrophy (werdnig-hoffman) features:

Answer 3

autosomal recessive inheritance
hypotonicity
hyporeflexia
tongue fasciculations
poor suck
abdominal respirations
FATAL

Question 4

Juvenile Spinal Muscular Atrophy also called

Answer 4

Wolfhart- Welander- Kugelberg

Question 5

Juvenile Spinal Muscular Atrophy presents as

Answer 5

autosomal recessive
proximal weakness
resembles myopathy
slowly progressive

Question 6

Adult onset SMA presents as

Answer 6

hypotonicity, hyporeflexia,

Question 7

Babies with infantile SMA (Werdnig Hoffman) present with what type of posture

Answer 7

“Frog Leg”- due to hip weakness

Question 8

Spinal muscular atrophy is a disease of the upper or lower motor neurons

Answer 8

Lower

Question 9

EMG of werdnig-hoffman disease will show

Answer 9

denervations and fasciculations

Question 10

The muscle bopsy of a werdnig hoffman pt will show

Answer 10

group fiber atrophy

Question 11

Infantile SMA arises from mutations wher

Answer 11

survival motor neuron gene on chromosome 5Q

Question 12

Juvenile spinal muscular atrophy also caused by what

Answer 12

survival motor neuron gene mutation

KNOW,… The SMN gene has two copies:
SMN1 and SMN2. SMN1 is absent in spinal muscular atrophy and the size of SMN2 determines whther you have neonatal or juvenile form (larger = juvenile).

Question 13

Progressive Bulbar Palsy=

Answer 13

Sporadic, fasciculations, Bulbar muscle weakness, rapidly progressive, tongue atrophy

bulbar refers to muscles innervated by the medulla…causes tongue and palate weakness

Question 14

ALS

Answer 14

you know it….upper and lower motor neuron

Question 15

Progressive lateral sclerosis

Answer 15

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

Question 16

ALS patients have

Answer 16

weak, atrophic muscle fasciculations, hyperreflexia, spasticity, normal sensation

Cant breathe or swallow near the end

Question 17

Kennedy Disease

Answer 17

mutations of the androgen receptor on teh x chromosome

• phenotype involves gynecomastia and testicular atrophy, Lower motor neuron syndrome

Question 18

Pathology of ALS

Answer 18

degeneration of the corticospinal tracts. loss of anterior horn neurons

Question 19

Bunina bodies

Answer 19

eosinophilic inclusions in anterior horn cell neurons

Question 20

Treatment of ALS

Answer 20

glutamate antagonists