NMD Part 3 Flashcards
what are 2 types of neuropathies
spinal muscular atrophy (SMA)
charcot-marie tooth dz
what is SMA
genetic dz that causes progressive degeneration of motor neurons in SC
- & brainstem in severe cases
results in progressive ms weakness d/t denervation
what is the inheritance pattern of SMA
autosomal-recessive
- aka both parents need to be carriers)
what are SMN1’s role
involved in maintenance of anterior horn cells
what is the leading cause of death in infancy
SMA
before spinraza in 2016
what is the pathophys of SMA
most common form d/t to defect in survival motor neuron 1 (SMN1) gene
how is severity of SMA reflected in pathophys of dz
more severe - SMN1 gene depleted
less severe - SMN2 gene present in great numbers
- more preserved motor function and less disability
how is severe anterior horn cell loss in SMA reflected in ms
atrophic fibers
- islands of group hypertrophy
what are the classic signs of SMA
tongue fasciculations
resting hand tremors
if clinical findings suggest a SMA dx, what is the next step
this is a red flag
- stop and decide if more urgent or emergent referral
either way will generate referral for genetic testing
what are 5 clinical findings/red flags seen in dx SMA
- hypotonia and weakness (LE>UE)
- delayed onset of head control, or loss of motor skills in early childhood
- absent DTRs
- tongue fasciculations*
- resting hand tremors*
what is the SMA classification system defined by
phenotypic classification defined by:
- age of sx onset
- max function achieved
what are the 3 SMA types per their max function achieved
type I = nonsitters
- never achieve ability to sit (I)
type 2 = sitters
- achieve sitting, but not walking
type 3 = walkers
- walk (I) at some point but may lose function (as degeneration progresses)
prognosis of untreated SMA type 1 and why
fatal in early childhood
- respiratory dz
what is the age of sx onset for SMA type 1
0-3mo
are there any signs of type 1 SMA in utero
mothers have noted dec activity of fetus in utero in last weeks before birth
how are social/cognitive skills impacted in SMA
seemingly spared in all 3 types
what is the greatest functional ability that defines SMA 1
defined by inability to sit independently
how does weakness present in type 1 SMA
weakness greatest in prox ms
- progressively worsens
most never develop head control
what are the goals of rehab techniques in type 1 SMA
positional and palliative
- stretching, comfort, positioning
what is the onset of sx of type 2 SMA
12-18mo
what is the life expectancy for type 2 SMA
most survive to 5yo
fewer, but still majority survive to 25yo
what are the functional capabilities of SMA type 2 and how does this change
ability to sit independently
- lose ability over time
never walk independently
what are the 5 impairments/sx seen in type 2
fatigue
progressive ms weakness
joint contractures
scoliosis
pulmonary dz
when is type 3 SMA dx
12-18mo to 3yo
- type 3a dx <3yo
- type 3b dx >3yo
what is the life expectancy of SMA type 3
normal
what are the functional abilities of SMA type 3
able to amb independently w/o AD
loss of amb during adolescence w/o treatment
what are 4 impairments seen in type 3 SMA
- mild UE weakness noted initially but will decline
- post tib ms, hamstrings, and hip flexor tightness
- scoliosis d/t postural compensations & ms weakness
- fatigue
what are 5 medical interventions for SMA
respiratory care
wt management
surgery
liquid albuterol
meds to change dz course
what types of SMA is respiratory care implemented in and how
type 1 and 2
- biPAP for some at night
- daily cough assist/suctioning
why is wt management a relevant medical intervention for SMA and what types is this most relevant in
aides movement
- in type 1 and 2, easier for them to move and for us to move them
what surgeries are seen in SMA and what are the indications for them
scoliosis
hip sublux/dislocation
optimizes:
- lung function
- sitting balance
- decrease pain
why is liquid albuterol a relevant intervention for SMA
can inc energy levels during day
what are the 2 main types of meds that can change the course of SMA
spinraza
gene therapy (zolgensma, evrysdi)
what are the outcomes of meds that change the course of SMA
able to maintain motor function longer w dec need for AD/equipment
- enables kids to live longer
what research has been associated w the new medication treatments for SMA
PT-driven research
what has been a new consideration/question now that there are meds available that change the course of SMA
classifications of SMA may need to change w evolving medical treatments
what is the frequency of PT exams in SMA and why
every 4-6mo if possible
- bc progressive dz
what are the 6 components assessed in the PT exam for SMA
ROM
posture
strength (myometry)
performance based scales
pt/caregiver reports
ADLs/equipment
what are 3 things that the PT exam contributes in SMA
medical intervention and management
monitoring of effectiveness
research on effectiveness
what are performance based scales looking at in SMA and how can caregivers be helpful with this
have them do the task and see what their capacity/ability to perform task is
- caregiver can give you insight on what that normally looks like
what are 3 performance based motor function scales used in SMA
CHOP - intend
hammersmith functional motor scale
6MWT
what population is the CHOP-intend test appropriate for
infants
type 1
weaker adults unable to sit
what are the 4 main components looked at in the CHOP-intend test
head control
facilitated rolling
AG UE/LE movement
WBing
what population is the hammersmith functional motor scale expanded appropriate for
type 2 and 3 SMA
>2yo
what does the hammersmith functional motor scale expanded assess
measure of non amb function
amb tasks
why was the hammersmith functional motor scale expanded
expanded to fit those who are ambulatory (both non-amb and amb)
what does pt/caregiver report measure
typical vs best performance
what can pt/caregiver report be important in and why
drug trials
- highlights meaning of change to individual / caregiver
what are 4 patient/caregiver reports that are valid and reliable in SMA
SMA health index
pediatric quality of life (PEDSQL)
egen-klassification scale 2
pediatric eval disability inventory - computer adaptive test (PEDI-CAT)
what specifically does the PEDI-CAT used in SMA look at
pt/caregiver report
measures participation in mobility, daily activities, and social function
what is the functional expectation of SMA type 1
non-sitter
what are the 3 primary goals of PT intervention in SMA type 1
optimization of function
minimization of impairment
optimize tolerance to various positions
what are the 4 main interventions of SMA type 1
stretching: min 3-5x/wk
positioning: daily
chest physio/ACT
functional mobility
why can WBing be helpful in pts who aren’t able to stand
MSK alignment
lung function
elongate ms to prevent any stretch contractures
what are 3 stretching interventions for SMA type 1
- PROM/AAROM
- WBing devices (ie standers)
- orthosis/splints (>60min to overnight)
what are 2 positioning interventions in SMA type 1
strollers - power TIS
orthosis/splint
- >60min to overnight
- 5x/wk to be effectivee
what is the duration and frequency of splints/orthoses usage to be effective
> 60min to overnight
5x/wk
what are 2 chest PT/ACT interventions for SMA type 1
manual percussion/vibration
- airway clearance vest
postural drainage
what are 2 functional mobility interventions in SMA type 1
use of seating/mobility systems
- power wc, switches, lifts
mobile arm supports & environmental controls
why might an abdominal binder be implemented in SMA type 1
respiration
what are the 2 primary goals of SMA type 2
- prevent contractures and scoliosis
- maintain, restore, and/or promote function and mobility
what are PT interventions in type 2 SMA and how does this change over the course of the lifespan
infancy - head, trunk control
toddler
- orthoses for active/static standing
- gait training w AD
- fall prevention
child - wheeled mobility
adolescence/adults
- education on pulm care
- power training (as wc mechanism changes)
- vocational training
- ADL training
what similarities are seen in PT interventions used in type 2 vs type 1 SMA
type 2 infants - working on head and trunk control
similar to what you work on w type 1
what is the primary goal for PT intervention in type 3 SMA
maintain, restore, and/or promote function and mobility including adequate balance, joint range and endurance
how are PT interventions used in type 3 similar to type 2 SMA
encourage ms activation
what are the 3 main PT interventions for type 3 SMA
stretching
LE orthoses
mobility exercise
describe how stretching is implemented as a PT intervention in type 3 SMA
minimum of 2-5x/wk
- P/AA/AROM
why are LE orthoses utilized as an intervention in type 3 SMA (3)
flexibility
posture
function distal LE
what are mobility and exercise interventions are implemented in type 3 SMA (5)
wc
functional strengthening
endurance
balance
environmental access
what should be avoided in mobility and exercise in type 3 SMA
eccentric control tasks / high impact
want to avoid overexertion
describe the usage of a wc in type 3 SMA
lightwt manual wc
- when walking not reasonable
power assist
progress to power wc/scooter prn
what is an important PT intervention in all 3 types of SMA
stretching
what is charcot-marie-tooth disease (CMT)
inherited neurodegen dz of peripheral nerves
- several types
what is the onset of charcot-marie-tooth dz
adolescence or early adulthood
what is the inheritance of CMT
autosomal dominant
autosomal recessive
X-linked
what is the pathophys of CMT
axonal degen and demyelination of motor and sensory nerves (distal >prox)
d/t defects in genes responsible for creating/maintaining myelin sheath and axonal structures
what ab the inheritance of CMT makes it more complicated
X-linked
how is CMT dx (4)
nerve conduction studies
EMG
genetic testing
nerve biopsy
what is a classic clinical presentation of CMT
foot posturing
what are secondary deficits of CMT
prox hip and core ms weakness
contractures, hammer toes, high foot arches
what are primary clinical presentations of CMT
ms weakness and sensory loss (progressive decline)
- atrophy observable
- location/extent depends on type
dec/absent DTRs
gait abnormality into adulthood
chronic pain
what are 5 impairments of CMT that you would want to exam in PT exam
strength
ROM
sensation
posture
- alignment and LE alignment
- hammer toe
reflexes
what are 3 activity level components you would want to exam in your PT exam for CMT
balance
- in standing (static and dynamic)
- gait - level, uneven surfaces, stairs
- transfers
what are the 7 primary role of PT in NMDs
- early screening and referral
- gross motor/mobility training
- attempts at early prevention of progressive contractures
- education - safe parameters and precautions for exercise (ie avoid overexertion -> rhabdomyolysis)
- adapted equipment as needed
- family support
- management of respiratory impairments
