ALS - Overview and PT Management Flashcards
ALS definition
Amyotrophic lateral sclerosis (ALS) is a progressive
neurodegenerative disease characterized by
degeneration and eventual death of upper motor neurons and lower motor neurons causing weakness of the limb, respiratory, and bulbar musculature.
- MOST COMMON MN DISEASE IN ADULTS
Meaning of amyotrophy
muscle wasting
-loss of brains, CN nuclei and anterior horn cells in spinal cord
meaning of lateral sclerosis
hardening of the lateral spinal cord due to gliosis of pyramidal tracts
-loss of cortical motor cells causing corticospinal tract dysfunction –> affect on voluntary movement
Epidemiology of ALS
more common in men 1.7:1
peak age of diagnosis: 65-70
median onset: 51-66 years
** usually diagnosed after 40 years old
more prevalent in white persons compared to non-white (might be methodological issues)
Risk Factors ALS
-older age
-lower BMI
-cigarette smoking
-professional athletes are more at risk than recreational athletes
-repeated head injuries
-exposure to toxic chemicals
-5-10% cases are familial –> 30 ALS associated genes identified
Pathology of ALS
-dysfunction of astrocytic excitatory amino acid transporter 2 (EAAT 2)
-glutamate excitotoxicity due to reduced uptake of glutamate from synaptic cleft –> leads to neurodegeneration through activation of Ca dependent enzymatic pathways
What is excitotoxicity?
Excitotoxicity is a phenomenon that describes the toxic actions of excitatory neurotransmitters, primarily glutamate, where the exacerbated or prolonged activation of glutamate receptors starts a cascade of neurotoxicity that ultimately leads to the loss of neuronal function and cell death.
What is the name of the criteria that helps to clinically diagnose ALS?
EL ESCORIAL CRITERIA
3 findings for Clinical Diagnosis ALS:
1- Evidence of LMN degeneration by
clinical, electrophysiological (EMG)
or neuropathological exam
2- Evidence of UMN degeneration by
clinical exam
3- Progression within a body region and two other regions
** THREE REGIONS TOTAL NEED TO BE AFFECTED
DEFINITE ALS:
-presence of UMN and LMN signs in 3 anatomical regions
PROBABLE ALS:
-presence of UMN and LMN signs in at least two regions with UMN sign rostral to LMN signs
PROBABLE ALS, lab results supported:
-presence of UMN and LMN signs in one region with evidence by EMG of LMN involvement in another region
UMN AND LMN SIGNS IN ALS
UMN SIGNS
-weakness
-spasticity
-hyperrefelxia
-pathologic reflexes
-pseudobulbar affect –> crying or laughing uncontrollably
LMN SIGNS
-weakness
-muscle wasting
-muscle cramps
-fasciculations–> involuntary muscle twitching
Spectrum of ALS
MOST COMMON: bulbar and spinal onset ALS
SPINAL ONSET
-fasciculations, atrophy, weakness, spasticity
-affects the limbs
BULBAR ONSET
-changes in speech, diff swallowing, involuntary tongue twitching
-more common in women > 60
-typically progresses faster
RESPIRATORY ONSET - RARE: ~1%
-SOB
-orthopnea –> SOB in supine/prone
-sleep disordered breathing
-cognitive impairment in 50% of the patients
–> changes in behavior (disinhibition, lack of judgement, apathy)
-difficulty with expression of language but comprehension preserved
-executive dysfunction
-15% meet criteria for frontotemporal dementia
Patient typically decline _____ point/month on the ALS functional rating scale
- most widely used measure of disability progression for ppl with ALS
1 point per month
12 points possible in each category
ALSFRS-R MEANING
ALS functional rating scale- revised
used to measure disability progression in ALS
ALSFRS-R MEANING
ALS functional rating scale- revised
ALSFRS-R categories
BULBAR
-speech
-salivation
-swallowing
FINE MOTOR
-handwriting
-cutting food
-dressing and hygiene
GROSS MOTOR
-turning in bed
-walking
-climbing stairs
RESPIRATORY
-dyspnea
-orthopnea –> progress to using more pillows or sleep sitting up–> unable to sleep
-respiratory insufficiency –> use of bipod or mechanical ventilation most extreme
King’s clinical staging of ALS
presymptomatic
involvement of one clinical region
involvement of two clinical regions
involvement of three
substantial or respiratory or nutritional failure
death
MITOS functional staging of ALS
functional involvement (disease onset)
loss of independence in one functional domain
loss of independence in two
loss of independence in three
loss of independence in four
death
Prognosis
-death typically 2-5 years after disease onset
-10 year survival: 10%
NEG FACTORS:
-bulbar onset
-weight loss
-cog impairment
-impaired respiratory function
PT : maintaining function for longer periods, decreasing caregiver burden, facilitating referrals, expediting equipment
Assessments of motor function
MMT, MVIC (maximum voluntary isometric contraction), dynamometer (quantify loss of mm. over time)
respiratory function - FVC (forced vital capacity), max inspiratory force (MIF)
Quality of life scales for ALS
SF-36
ALS assessment questionnaire (ALSAQ-40
Two common medications used for ALS
Rilutek, Tiglutik (riluzole)
Radicava (edaravone)
Access to medical aid in dying —>
may be available in certain states
Commonly reported symptoms
fatigue
muscle stiffness
muscle cramps
SOB
difficulty sleeping
pain
anxiety
depression
Body structure and function
ROM
strength –> muscle wasting very common
sensation
muscle tone
skin integrity
cognition–> ALS cognitive behavioral scale
-respiratory status - breathing pattern, chest auscultation, respiratory rate, cough strength
