ALS Flashcards
when is the average age of onset
mid 50s
what is the pathogenesis of ALS and what makes it unique among neuro conditions
progressive degenerative motor neuron dz
has features of both LMN and UMN conditions
what is the pathophys that leads to features of both UMNs and LMNs
LMN: loss of ant horn cells and CN motor nuclei w degeneration of axons -> denervated skeletal ms and atrophy (AMMYOTROPHIC)
UMN: degeneration of Betz cells in motor cortex w demyelination and gliosis of corticospinal (LATERAL SCLEROSIS) and corticobulbar tracts
- tracts fill w plaque and scar
- tracts run laterally = lateral sclerosis
- corticobulbar = impact CNs
what CNs are typically spared
III, IV, and VI
- eye mvmts preserved
what tract and function is often spared
spinocerebellar tracts and sensory function
what other physiological changes also happen in the CNS and is this considered primary or secondary to ALS pathogenesis
mitochondrial dysfunction, collection of cytoskeleton proteins, high levels of glutamate (excitatory neurotransmitter in CNS), free radical release (garbage in CNS), excitotoxicity, inflammation and apoptosis
not sure if secondary to dz process or causing it
what are the two patterns of onset
bulbar onset
limb onset
describe a bulbar pattern of onset
difficulty speaking, swallowing, respiratory w onset (CNs)
describe a limb pattern of onset
asymmetrical weakness in UE, LE, or both
will eventually have impairments in both as dz progresses
who do you see a slower progression in
younger pts
limb onset
what is the prognosis but what about this is slightly misleading
poor, death w/i 2-5 years after dx
dz process has been likely occurring for several years before dx bc of the damage seen when finally dx
what is the most common cause of death in ALS
respiratory complications
- respiratory ms so weak can’t breathe -> respiratory failure
what are some etiologies
not well understood
cell abnormalities triggered by genetic predisposition and/or environmental insults
5-10% have genetic link
mutation of chromosome 21
theories: viral infection, environmental toxins, autoimmune reaction
how could a gene mutation of chromosome 21 be a possible etiology and what does the research say
dec action of superoxide dismutase 1
- enzyme/protein that helps to breakdown garbage and byproducts of O2 metabolism
leads to free radical accumulation -> start cytotoxicity process
carriers of mutation don’t always develop ALS
how is ALS dx
no definitive dx test
dx made by recognition of clinical pattern (both UMN and LMN signs) and a synthesis of test results
- neuroimaging (MRI), SPECT/PET
how may neuroimaging (ie MRI) help w dx
may show signs of atrophy of precentral and postcentral gyri, frontal lobe
may see scarring in descending corticospinal tracts
may be normal especially in early stages
how may SPECT/PET help w dx
evidence of glucose hypometabolism c/w neuronal loss in motor cortex & corticospinal tract
- more sensitive in detection
what may PET and fMRI show in dx and why would this be the case
shift of motor cortical activation and extra-motor activation during limb task
- neuroplasticity able to reshape cortex and take over new functions as Betz cells degenerate
how might EMGs help in dx
spontaneous fibrillations and fasciculations w giant or large unit spikes upon volitional activity
how might NCV help in dx
usually WNL
- if nerve hasn’t degenerated yet, conduction isn’t impaired
how might a CSF sample help in dx
inflammatory markers, elevated proteins may be present
- no specific biomarkers determined yet
what has been a major limitation in trying to develop effective meds
short lifespan after dx
what are limitations in medical management (4)
poorly understood etiology
different phenotypes
difficult to dx early
lack of translation b/w mouse and human models
what are properties of Riluzole and what were outcomes
glutamate inhibitor
- dec amt of glutamate in CNS
neuroprotective agent
- dec hyperexcitability of neurons and damage from accumulation of glutamate
inc survival by ~3mo
Radicava: form, MOA, SE, and outcomes
IV infusions
unknown MOA, but antioxidant
may cause allergic reaction
slows decline in physical functioning
pts may take meds for symptom management such as:
pain
spasticity
sialorrhea
anxiety
depression
what are 2 medical management treatments under investigation
stem cell therapy
gene therapy
Relyvrio: efficacy, MOA, ADE
better survival than in other meds
supports survival of motor neurons by supporting mitochondria and sarchoplasmic reticulum
main ADE are GI sx
- diarrhea, abdominal pain, nausea
- upper respiratory tract infections
what are 3 other medical management treatments/strategies needed for secondary support
respiratory care
nutritional support
brain computer interface
when may nutritional support be needed
earlier w bulbar onset bc ms involved in chewing/swallowing
- later in limb onset
what does a brain computer interface offer and where is this seen
permits communication, operation of lights, computer
- not in early dev
in clinical trials
what are examples of respiratory care that individuals may need and why
CPAP or BiPAP
assisted cough devices
mechanical vent
often have sleep apnea
need cough assistive device for effective coughs to prevent pneumonia
when does someone finally present w ALS and why
once 80% of motor neurons lost
- cover up sx for so long bc of neuroplasticity and the sprouting of intact dendrites
what are the most common presenting sx (3) and what does the pt often c/o
isolated weakness**
ms cramping
ms fasciculations
“i kept tripping”
what clinical onset pattern is the most common
limb onset (70%)
- bulbar is 30%
how and when do sensory deficits present
vague sensory changes in later stages in 20%
sensation is usually intact bc sensory pathways are intact
- not a hallmark
what is fronto-temporal dementia and how common is it
characterized by behavior changes, emotional dysregulation, involves motor functions
- d/t loss of Betz cells in frontal lobe
only in 30% of people
what are ANS involvement presentations and how common is it
irregularities in BP, HR, thermoregulation, sweating
(40% of people)
what are the primary types of clinical s/sx seen
LMN and UMN
what are LMN s/sx seen (5)
weakness
hyporeflexia
hypotonicity
atrophy
ms cramps and fasciculations
what are UMN s/sx seen (4)
spasticity
- more common than hypotonicity
pathological reflex (babinski)
hyperreflexia
impaired motor control
- inability to voluntary contract a ms
what are secondary s/sx
fatigue
wt loss
cachexia
loss of ROM
balance disturbance
loss of mobility
pressure ulcers
contractures
subluxation
pain
dec endurance
depression
anxiety
why is fatigue a common secondary s/sx
loss of motor neurons leads to energy inefficiency
why are pressure ulcers a possible secondary s/sx
repositioning difficulties
issue w nutrition bc of problems w chewing/swallowing
what are bulbar s/sx (4)
dysarthria
dysphagia
sialorrhea
pseudobulbar affect
what is pseudobulbar affect
when degeneration in frontal lobe, can see spontaneous onset of laughing/crying w no emotional triggers
- will often feel embarrassed by this -> lead to activity limiting behaviors w isolation
what are respiratory s/sx (5)
dyspnea (DOE)
nocturnal difficulty - CPAP
accessory ms use
dec cough effectiveness
paradoxical breathing pattern
what are the 6 dz stages (per a typical limb onset)
- early, (I), weak in specific ms groups
- early, mod weakness in ms groups, minor difficulty w mobility/fine motor/ADLs
- middle, mild to mod limitation in mobility, ambulatory w orthotics/ADs
- middle, severe limb weakness, w/c for mobility, MI w ADLs using ADs
- late, w/c for all mobility, dependent transfers & ADLs
- pain and pressure ulcers - late, dependent for all mobility and care, respiratory complications, contractures, pain
how do the 6 dz stages look differently for a bulbar onset
- hoarseness, aspiration
- more difficulty speaking, swallowing
- change in food textures, thickened liquids
similar sx stages 4-6 bc will have limb sx at this point
what is the focus of PT management in ALS
focus on function and quality of life
given the progressive nature of the dz, how does this impact PT management
compensatory and preventative focus rather than restorative
- planning for progression
- better to be more aggressive
what is the purpose of exercise in ALS and what does research say
won’t change rate of progress, but will help w quality of life
there isn’t a lot of evidence, and not a lot of guidelines as a result
what are important things to avoid in exercise in ALS (4)
- avoid high reps
- avoid fatigue
- shouldn’t deplete energy available to perform daily, routine activities
- avoid eccentric activities
what are suggested guidelines for exercises in ALS
mod intensity resistance in ms groups 3+/5
2/5 or less ms groups = PROM
why should cardiopulm exercises follow similar guidelines of mod intensity
even in early stages of ALS, there is an impaired VO2 max, work capacity and metabolic responses
-> endurance will be limited
what is overwork damage and what should you do if you suspect this
physiological change if overwork weak ms
-> can lead to new weaknesses that didn’t have before exercise
rest fully before return to exercise
what are 3 signs of overwork damage to monitor for
- inc fatigue the same or following day that is different from typical end of day fatigue
- functional weakness or weakness that prevents them from performing an activity they could do prior
- inc ms soreness, cramping, or fasiculations
what are the 2 primary characteristics of early stages of ALS
mild weakness
minimal difficulties w ADLs and mobility
what are the 2 strategies implemented for PT across all stages of ALS
restorative/prevention
compensation
what are components in a restorative/prevention strategy in an early stage of ALS
strength
- maintain max ms strength
- prevent disuse atrophy
- avoid overwork damage
ROM: a/arom, stretching
aerobic capacity and endurance
what are components in a compensatory strategy in an early stage of ALS
adaptive equipment, ADs, home and work modifications, energy conservation
- teach them how to use equipment even if don’t need it yet (they will)
what are 4 primary characteristics of a middle stage of ALS
mobility and ADL decline
mod weakness
w/c use
pain
what are components in a compensatory strategy in a middle stage of ALS
adaptive equipment, splints, orthotics, home modifications, w/c, caregiver training
what are components in a preventative strategy in a middle stage of ALS
a/arom to prom, stretching
endurance
pressure relief/skin protection
what are 7 primary characteristics of late stages of ALS
w/c dependent
dependence w ADLs
severe weakness and paralysis
dysarthria
dysphagia
respiratory compromise
pain
what are components in a compensatory strategy in a late stage of ALS
mechanical lift, ventilator support, caregiver ed and training, hospice or palliative care
what are components in a preventative strategy in a late stage of ALS
PROM
pulmonary care/hygiene
pressure relief and skin care
what is a battle that PT often has w insurance
insurance often denies coverage for equipment needed in later stages d/t short life expectancy
what are 3 disease specific standardized tests and measures? what type of measures are they all?
ALS functional rating scale
ALS severity scale
ALSAQ-40
all self report
what are 5 general standardized tests and measures that could be used and how do we determine when to utilize them
sickness impact profile (SIP)
FIM-inpatient rehab only
fatigue severity scale
2 or 6min walk test
- earlier stages and amb
10m walk test
dependent on client and goals
what are 7 components to ALS that an interdisciplinary approach addresses
spasticity management
pain control
augmented communication
pulmonary hygiene
nutrition
psych support
palliative care
