NM3 Rare Diseases: ALS, PPS, CMT (ALS, Post-Polio,
CMT) Questions and Answers
ALS is what type of disease?
Motor neuron disease that is inherited or sporadic
(UMN and LMN)
Most common motor neuron disease?
ALS (and most commonly limb onset vs bulbar)
ALS is the degeneration of?
Motor neurons in SC, brainstem, and brain
ALS affects what population more?
Men
In ALS, 20% of hereditary cases have a defect with the gene encoding?
Copper-zinc super oxide dismutase
What areas of the brain/SC does ALS affect? (4)
-UMN in cortex
-Corticospinal tracts
-Brainstem nuclei for CNV, 7, 9, 10, and 11
-Ant horn cells
Which is true about ALS looking at a cross section of the SC?
-Marked pallor secondary to degen of lat and ant corticospinal tracts
-Ventral roots atrophied compared to dorsal root
Both
In ALS onset, are symptoms:
-Focal
-Symmetrical
-Asymmetrical
Focal and asymmetrical
Impairments of Bulbar onset ALS (5)
-Bulbar m weakness
-Dysarthria
-Dysphagia
-Sialorrhea
-Pseudobulbar affect
ALS dx requires presence and absence of?
Presence: LMN/UMN signs, progression
Absence: Electrophysical/pathological evidence of other disease, neuroimaging
evidence of other disease
Survival rate/prognosis for ALS
Death 3-5 yr
-<35-40yo and LIMB onset have better 5yr survival rates
-Better psychological well being helps
Riluzole medication helps ALS how?
Extend lifespan 2-3months with improvement in function, but no strength benefit
Cannabis can help ALS with?
, Spasm/spasticity
What areas are important to emphasize in the eval of ALS
-Bulbar/respiratory impairments
-Enviro blocks to ind
-Caregiver demands and edu of disease
-Rate of disease progression
-Pain lvl, fatigue, and effort
When would we refer ALS to the ENT?
If bulbar and respiratory functions are impaired or are new onset
What are the 5 areas of health looked at in the ALS Assessment Questionnaire
Mobility, ADL, eat/drink, communication, emotional
ALS interventions should be recovery or compensation based?
Compensation
What can help slow progression of heriditary forms of ALS like copper-zinc
superoxide dismutase?
What may lead to damage?
Mod intensity exercise (however this is in mice)
-Damage of m fibers may occur with repeated max eccentric contraction
What exercise prescription would we use for ALS?
-MRE using PNF
-Supervised gentle exercise
-Aerobic endurance 10-15min
Do the benefits of exercise fully outweigh the risks in ALS
Research is unclear (only 3 studies have shown positive effects but don't know adverse
events)
What are known negative outcomes to exercise with ALS?
-Overwork damage
-Damage to normal m fiber with repetitive eccentrics
-Exercise intolerance
In ALS overwork damage occurs where? Impairs what?
Occurs in denervated m with <1/3 motor units
-Impairs collateral sprouting
Damage to normal m fiber in ALS with rep eccentric work occurs why?
Normal m may not have repair capabilities
Why might ALS have exercise intolerance?
Mitochondrial dysfunction, abnormal m metabolism, impaired activation, central
activation failure
Looking at negative outcomes of exercise, how do we know we need to adjust the
exercise prescription for ALS?
Morning fatigue and sig persistent weakness then program should be ceased and
redesigned
Polio is what type of disease?
Enterovirus that affects motor neurons of the anterior horn cells: Apoptosis
What type of recovery can we see with Polio?
Partial: As motor unit is denervated, adjacent motor neurons re-innervate creating large
motor units
CMT) Questions and Answers
ALS is what type of disease?
Motor neuron disease that is inherited or sporadic
(UMN and LMN)
Most common motor neuron disease?
ALS (and most commonly limb onset vs bulbar)
ALS is the degeneration of?
Motor neurons in SC, brainstem, and brain
ALS affects what population more?
Men
In ALS, 20% of hereditary cases have a defect with the gene encoding?
Copper-zinc super oxide dismutase
What areas of the brain/SC does ALS affect? (4)
-UMN in cortex
-Corticospinal tracts
-Brainstem nuclei for CNV, 7, 9, 10, and 11
-Ant horn cells
Which is true about ALS looking at a cross section of the SC?
-Marked pallor secondary to degen of lat and ant corticospinal tracts
-Ventral roots atrophied compared to dorsal root
Both
In ALS onset, are symptoms:
-Focal
-Symmetrical
-Asymmetrical
Focal and asymmetrical
Impairments of Bulbar onset ALS (5)
-Bulbar m weakness
-Dysarthria
-Dysphagia
-Sialorrhea
-Pseudobulbar affect
ALS dx requires presence and absence of?
Presence: LMN/UMN signs, progression
Absence: Electrophysical/pathological evidence of other disease, neuroimaging
evidence of other disease
Survival rate/prognosis for ALS
Death 3-5 yr
-<35-40yo and LIMB onset have better 5yr survival rates
-Better psychological well being helps
Riluzole medication helps ALS how?
Extend lifespan 2-3months with improvement in function, but no strength benefit
Cannabis can help ALS with?
, Spasm/spasticity
What areas are important to emphasize in the eval of ALS
-Bulbar/respiratory impairments
-Enviro blocks to ind
-Caregiver demands and edu of disease
-Rate of disease progression
-Pain lvl, fatigue, and effort
When would we refer ALS to the ENT?
If bulbar and respiratory functions are impaired or are new onset
What are the 5 areas of health looked at in the ALS Assessment Questionnaire
Mobility, ADL, eat/drink, communication, emotional
ALS interventions should be recovery or compensation based?
Compensation
What can help slow progression of heriditary forms of ALS like copper-zinc
superoxide dismutase?
What may lead to damage?
Mod intensity exercise (however this is in mice)
-Damage of m fibers may occur with repeated max eccentric contraction
What exercise prescription would we use for ALS?
-MRE using PNF
-Supervised gentle exercise
-Aerobic endurance 10-15min
Do the benefits of exercise fully outweigh the risks in ALS
Research is unclear (only 3 studies have shown positive effects but don't know adverse
events)
What are known negative outcomes to exercise with ALS?
-Overwork damage
-Damage to normal m fiber with repetitive eccentrics
-Exercise intolerance
In ALS overwork damage occurs where? Impairs what?
Occurs in denervated m with <1/3 motor units
-Impairs collateral sprouting
Damage to normal m fiber in ALS with rep eccentric work occurs why?
Normal m may not have repair capabilities
Why might ALS have exercise intolerance?
Mitochondrial dysfunction, abnormal m metabolism, impaired activation, central
activation failure
Looking at negative outcomes of exercise, how do we know we need to adjust the
exercise prescription for ALS?
Morning fatigue and sig persistent weakness then program should be ceased and
redesigned
Polio is what type of disease?
Enterovirus that affects motor neurons of the anterior horn cells: Apoptosis
What type of recovery can we see with Polio?
Partial: As motor unit is denervated, adjacent motor neurons re-innervate creating large
motor units
