Week 8 Motor Neuron Disorders

Question 1

what is post polio syndrome (PPS)

Answer 1

new, slowly progressive muscle weakness occurring in individuals with a confirmed history of acute poliomyelitis following a stable period of functioning Attacks LMN, anterior horn cells

Question 2

background and etiology of PPS

Answer 2

estimated 1352 cases worldwide, and unknown. 22-68% of polio survivors will develop PPS. women more then men

Question 3

how long after polio does PPS peak

Answer 3

30-34 years

Question 4

what is the pathology of PPS

Answer 4

motor unit dysfunction because of overuse, MSK overuse and disuse, loss of motor units and normal aging, predisposition to motor neuron degeneration, virus reactivation, immune mediated syndrome, effect of growth hormone, and combined effects.

Question 5

what is the presentation of PPS

Answer 5

new weakness and atrophy 
abnormal fatigue 
pain 
decreased function 
slow progression 
cold intolerance
cognitive deficits
sleep disturbances 
decreased mobility

Question 6

what is the prognosis of PPS

Answer 6

not life threatening, progressive weakness, and compensatory strategies are learned.

Question 7

what is amyotrophic lateral sclerosis (ALS)

Answer 7

the destruction of UMN and LMN bilaterally, may be asymmetric. degeneration of the anterior horn cells and descending corticobulbar and corticospinal tracts.
astrocytes do not pick up the glutamate which leads to excitotoxicity

Question 8

what is the genetic mutation and gene for familiar ALS

Answer 8

SOD1 enzyme is not made

and the gene is autosomal dominant (Chromosome 21)

Question 9

what is the UMN signs of ALS

Answer 9

hyperreflexia 
weakness
pathologic reflexes
babinski 
pseudo bulbar affect 
spasticity

Question 10

what are the LMN signs of ALS

Answer 10

hypo reflex and Tonia, fasciculations, fibrillations and atrophy and weakness

Question 11

with ALS, what do you need, UMN or LMN signs

Answer 11

both!

Question 12

what is the presentation of ALS

Answer 12

characterized by the absence of sensory symptoms (only about 20% will have sensory changes).
cognition, extraoccular eye movements, ANS, bowel and bladder, sexual functions, sight, smell and hearing is usually intact. Pseudo-bulbar S and S

Question 13

what are the pseudo-bulbar S and S of ALS

Answer 13

dysarthria, dysphagia and emotional changes

Question 14

additionally signs and symptoms of ALS

Answer 14

Autonomic dysfunctions (not usually, only in 1/3), muscle weakness, respiratory impairments, pain, cognition is normal, but depression is common

Question 15

is cognition affected by ALS

Answer 15

usually normal

Question 16

what are the 4 proposed pathologies of ALS

Answer 16

1. excitotoxicity and glutamate transport
2. oxidative stress
3. mitochondrial dysfunction
4. protein aggregation

Question 17

excitotoxicity and glutamate transport:

Answer 17

excitotoxicity and glutamate transport: the glutamate transporter is lost, so glutamate clearance is interfered with, and calcium influx, which triggers apoptotic pathways and motor death

Question 18

oxidative stress

Answer 18

mutation in antioxidant enzyme SOD in 20% familial. leads to a buildup of oxidative stress

Question 19

what is mitochondrial dysfunction

Answer 19

suggests SOD 1 damage, impaired calcium handling, and promotes activation of cell death pathways

Question 20

what is protein aggregation

Answer 20

during an increased physiological or environmental stress, cells with normally hold mutant proteins (with toxins), and keep them in check. they are overloaded and impaired, so toxins make a mess

Question 21

what are the 3 ALS2 related disorders

Answer 21

1. infantile-onset ascending hereditary spastic paralysis (IAHSP)
2. juvenile primary lateral sclerosis (JPLS)
3. autosomal recessive juvenile ALS (JALS)

Question 22

what is IAHSP

Answer 22

onset of spasticity with increased reflexes, and sustained clonus of lower limbs within the first two years of life. weakness and spasticity increases in the upper limbs by 7-8 years, and then in the second decade bound to a WC, and progresses to spastic tetraplegia and pseudo bulbar syndrome.

Question 23

what is JPLS

Answer 23

loss of ability to walk during the second year of life, sings one UMN disease, WC bound, and loss of motor speed production

Question 24

what is JALS

Answer 24

onset around 6.5 years old, spasticity of facial muscles, uncontrolled laughter, dysarthria, spastic gait, atrophy, bowel and bladder dysfunction and sensory disturbances.

Question 25

what is the prognosis of ALS

Answer 25

death from respiratory failure, 50% live longer then 30 months, 20% live 5 years or more, less then 10% survive longer than 10 years.

Question 26

what is pseudo bulbar palsy

Answer 26

bilateral dysfunction of corticobulbar innervation of brainstem uncle, a central or UMN lesion like a corticospinal lesion disrupting function of anterior horn cells.

Question 27

pseudo bulbar palsy produces similar symptoms as

Answer 27

bulbar palsy

Question 28

what are some symptoms of pseudo bulbar

Answer 28

no gag reflex, hard to articulate, and phonate, and disruption of emotion, and inappropriate responses.

Question 29

what is progressive bulbar palsy (PBP)

Answer 29

motor neuron disease of the bulbar muscles, degenerative of motor neurons in the cerebral cortex, spinal cord, brainstem and pyramidal tracts
involves glossopharyngeal, vagus and hypoglossal cranial nerve.
onset of 50-70 years old.
common symptoms to ALS

Question 30

what is primary lateral sclerosis (PLS)

Answer 30

rare sporadic disorder with progressive spasticity of spinal and bulbar onset. UMN (LMN S\stays intact). spasticity, and typically begins in the Les. slower than ALS,

Question 31

approximately 45% of those with PLS will develop what kinds of symptoms, which progresses to ___

Answer 31

LMN symptoms, progress to ALS

Question 32

what is progressive muscular atrophy (PMA)

Answer 32

sporadic degenerative disease, affecting anterior horn cells, no UMN signs. Rare, and onset around 57. distal limb weakness and muscle atrophy. bulbar symptoms develop. 5-6 month survival

Question 33

what is spinal muscle atrophy (SMA)

Answer 33

genetic disorder (autosomal recessive, deletion of motor neuron-1 gene).
the motor neurons with cell bodies in the spinal cord degenerate (anterior horn cells). 1 in 6000 births

Question 34

what is the presentation of SMA

Answer 34

muscle weakness and atrophy, skeletal muscles affected, and severity goes by type, which impacts more of the ability to use your muscles. premature death

Question 35

when doing a motor neuron disease evaluation, what are we looking for

Answer 35

time of onset, and initial presenting symptoms. Patterns of weakness and spasticity (Bilateral or unilateral), distal and proximal, and limb or bulbar predominant.