Motor Neuron Disease Flashcards Preview

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Flashcards in Motor Neuron Disease Deck (20):
1

What makes up a motor unit

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

2

Infantile Spinal Muscular Atrophy also called

Werdnig- Hoffman

3

Infantile SPinal Muscular Atrophy (werdnig-hoffman) features:

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

4

Juvenile Spinal Muscular Atrophy also called

Wolfhart- Welander- Kugelberg

5

Juvenile Spinal Muscular Atrophy presents as

autosomal recessive
proximal weakness
resembles myopathy
slowly progressive

6

Adult onset SMA presents as

hypotonicity, hyporeflexia,

7

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

"Frog Leg"- due to hip weakness

8

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

Lower

9

EMG of werdnig-hoffman disease will show

denervations and fasciculations

10

The muscle bopsy of a werdnig hoffman pt will show

group fiber atrophy

11

Infantile SMA arises from mutations wher

survival motor neuron gene on chromosome 5Q

12

Juvenile spinal muscular atrophy also caused by what

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).

13

Progressive Bulbar Palsy=

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

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

14

ALS

you know it....upper and lower motor neuron

15

Progressive lateral sclerosis

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

16

ALS patients have

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

Cant breathe or swallow near the end

17

Kennedy Disease

mutations of the androgen receptor on teh x chromosome

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

18

Pathology of ALS

degeneration of the corticospinal tracts. loss of anterior horn neurons

19

Bunina bodies

eosinophilic inclusions in anterior horn cell neurons

20

Treatment of ALS

glutamate antagonists