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