L14 Degenerative Diseases Flashcards
(41 cards)
ALS basic pathophys
progressive loss of AHC in SC and motor neurons in brain stem
betz cells degenerate in motor cortex
corticospinal and corticobulbar tracts demyelinate and undergo gliosis/cell tearing
corticobulbar tract
carries info from primary motor cortex through internal capsule for motor innervation of cranial nerves
travels through internal capsule, cerebral peduncle, pons, medulla
ALS epidemiology
10% inherited autosomal dominant
men 3:2
avg age: 57, most 55-65
two types of ALS
sporadic: 90%
familial: 10%, genetic
genetic ALS etiology
chromosome 21 long arm
endemic to some places
theory for sporadic etiology
complex protein misfolding disorder with mitochondrial dysfunction and microglia inflammation
median survival of ALS after diagnosis
2-4 years
some live 10+ years (5-10%)
what happens at synapses in ALS
loss of glutamate regulation due to a reduction in glutamate transporters
causes cells to die from excitotoxicity/glutamate poisoning
early presentation of ALS
stiff muscles
muscle twitches
rapidly progressive weakness
muscle atrophy
pain
CN involvement
mix of UMN and LMN symptoms
profound fatigue
dysphagia/dysarthria
reduced dexterity
loss of function with tongue fasciculations
split hand
intrinsic muscles of hand atrophy creating deep valleys in hands as a sign of early ALS
motor presentations of ALS
scapular winging
hand intrinsic atrophy
tongue fasciculations
visible arm atrophy
clinical presentation patterns
spinal onset: mix of UMN/LMN
bulbar onset: CN only
progressive muscular atrophy: limb LMN signs
primary lateral sclerosis: limb UMN signs
pseudopolyneurotic: LMN signs glove/stocking pattern
hemiplegic: UMN UL UE and LE
flail arm: BL UE LMN, BL LE UMN
flail leg: one LE LMN signs
kings clinical staging of ALS
presymptomatic
one region involvement
two region
three region
substantial respiratory/nutritional failure
death
MITOS functional staging of ALS
functional involvement
loss of independence in one domain
loss of independence in two domains
loss of independence in three domains
loss of independence in four domains
death
diagnosis of ALS
diagnosis of exclusion
swallow study
tongue
lip
speaking rate - should be able to count to 10 without breathing
corticobulbar testing
progression of ALS
idiopathic progressive degeneration of AHC
symptoms can include flail arm, hemiplegia, dysphagia, dysarthria
respiratory compromise or failure, weak cough, respiratory muscle weakness
early stage ALS s/s
weakness
twitching
cramping
fatigue
poor balance
slurred speech
middle stage ALS s/s
severe weakness
muscle paralysis
dysphagia
breathing issues
uncontrollable laughter/crying (pseudobulbar)
late stage ALS s/s
paralysis in most muscle
extreme mobility limitation
inability to speak
respiratory failure
unable to eat or drink without assistance
PT management of ALS
track progression with UE/LE MMT
assess respiratory function
functional mobility: floor to stand, sit to stand, transfers, bed mobility, WC/devices
respiratory management of ALS
education on breathing exercise
chest stretching
incentive spirometry
supplemental O2
BiPAP
tracheostomy
home ventilation
exercise recommendation for ALS
no evidence on whether strengthening is detrimental
only isometrics
some evidence of strengthening early on, when MMT is 4/5
exercise at submaximal levels per pt tolerance
PT goals for ALS
based on pt’s personal goals, maximize function even if prognosis is poor
1. maximize independence
2. mobility independently
- orthotics or AD for safety
3. ROM to minimize contractures
4. energy conservation
5. respiratory management
6. eliminate and prevent pain
ventilation w ALS pts
10% of patients receive life prolonging ventilation
no consensus on best practice and varies based on healthcare model
