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Neuro Rehab 1 > NMD Part 3 > Flashcards

NMD Part 3 Flashcards

1
Q

what are 2 types of neuropathies

A

spinal muscular atrophy (SMA)
charcot-marie tooth dz

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2
Q

what is SMA

A

genetic dz that causes progressive degeneration of motor neurons in SC
- & brainstem in severe cases

results in progressive ms weakness d/t denervation

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3
Q

what is the inheritance pattern of SMA

A

autosomal-recessive
- aka both parents need to be carriers)

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4
Q

what are SMN1’s role

A

involved in maintenance of anterior horn cells

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5
Q

what is the leading cause of death in infancy

A

SMA
before spinraza in 2016

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6
Q

what is the pathophys of SMA

A

most common form d/t to defect in survival motor neuron 1 (SMN1) gene

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7
Q

how is severity of SMA reflected in pathophys of dz

A

more severe - SMN1 gene depleted

less severe - SMN2 gene present in great numbers
- more preserved motor function and less disability

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8
Q

how is severe anterior horn cell loss in SMA reflected in ms

A

atrophic fibers
- islands of group hypertrophy

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9
Q

what are the classic signs of SMA

A

tongue fasciculations
resting hand tremors

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10
Q

if clinical findings suggest a SMA dx, what is the next step

A

this is a red flag
- stop and decide if more urgent or emergent referral

either way will generate referral for genetic testing

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11
Q

what are 5 clinical findings/red flags seen in dx SMA

A
  1. hypotonia and weakness (LE>UE)
  2. delayed onset of head control, or loss of motor skills in early childhood
  3. absent DTRs
  4. tongue fasciculations*
  5. resting hand tremors*
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12
Q

what is the SMA classification system defined by

A

phenotypic classification defined by:
- age of sx onset
- max function achieved

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13
Q

what are the 3 SMA types per their max function achieved

A

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)

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14
Q

prognosis of untreated SMA type 1 and why

A

fatal in early childhood
- respiratory dz

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15
Q

what is the age of sx onset for SMA type 1

A

0-3mo

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16
Q

are there any signs of type 1 SMA in utero

A

mothers have noted dec activity of fetus in utero in last weeks before birth

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17
Q

how are social/cognitive skills impacted in SMA

A

seemingly spared in all 3 types

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18
Q

what is the greatest functional ability that defines SMA 1

A

defined by inability to sit independently

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19
Q

how does weakness present in type 1 SMA

A

weakness greatest in prox ms
- progressively worsens
most never develop head control

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20
Q

what are the goals of rehab techniques in type 1 SMA

A

positional and palliative
- stretching, comfort, positioning

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21
Q

what is the onset of sx of type 2 SMA

A

12-18mo

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22
Q

what is the life expectancy for type 2 SMA

A

most survive to 5yo
fewer, but still majority survive to 25yo

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23
Q

what are the functional capabilities of SMA type 2 and how does this change

A

ability to sit independently
- lose ability over time
never walk independently

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24
Q

what are the 5 impairments/sx seen in type 2

A

fatigue
progressive ms weakness
joint contractures
scoliosis
pulmonary dz

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25
when is type 3 SMA dx
12-18mo to 3yo - type 3a dx <3yo - type 3b dx >3yo
26
what is the life expectancy of SMA type 3
normal
27
what are the functional abilities of SMA type 3
able to amb independently w/o AD loss of amb during adolescence w/o treatment
28
what are 4 impairments seen in type 3 SMA
1. mild UE weakness noted initially but will decline 2. post tib ms, hamstrings, and hip flexor tightness 3. scoliosis d/t postural compensations & ms weakness 4. fatigue
29
what are 5 medical interventions for SMA
respiratory care wt management surgery liquid albuterol meds to change dz course
30
what types of SMA is respiratory care implemented in and how
type 1 and 2 - biPAP for some at night - daily cough assist/suctioning
31
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
32
what surgeries are seen in SMA and what are the indications for them
scoliosis hip sublux/dislocation optimizes: - lung function - sitting balance - decrease pain
33
why is liquid albuterol a relevant intervention for SMA
can inc energy levels during day
34
what are the 2 main types of meds that can change the course of SMA
spinraza gene therapy (zolgensma, evrysdi)
35
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
36
what research has been associated w the new medication treatments for SMA
PT-driven research
37
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
38
what is the frequency of PT exams in SMA and why
every 4-6mo if possible - bc progressive dz
39
what are the 6 components assessed in the PT exam for SMA
ROM posture strength (myometry) performance based scales pt/caregiver reports ADLs/equipment
40
what are 3 things that the PT exam contributes in SMA
medical intervention and management monitoring of effectiveness research on effectiveness
41
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
42
what are 3 performance based motor function scales used in SMA
CHOP - intend hammersmith functional motor scale 6MWT
43
what population is the CHOP-intend test appropriate for
infants type 1 weaker adults unable to sit
44
what are the 4 main components looked at in the CHOP-intend test
head control facilitated rolling AG UE/LE movement WBing
45
what population is the hammersmith functional motor scale expanded appropriate for
type 2 and 3 SMA >2yo
46
what does the hammersmith functional motor scale expanded assess
measure of non amb function amb tasks
47
why was the hammersmith functional motor scale expanded
expanded to fit those who are ambulatory (both non-amb and amb)
48
what does pt/caregiver report measure
typical vs best performance
49
what can pt/caregiver report be important in and why
drug trials - highlights meaning of change to individual / caregiver
50
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)
51
what specifically does the PEDI-CAT used in SMA look at
pt/caregiver report measures participation in mobility, daily activities, and social function
52
what is the functional expectation of SMA type 1
non-sitter
53
what are the 3 primary goals of PT intervention in SMA type 1
optimization of function minimization of impairment optimize tolerance to various positions
54
what are the 4 main interventions of SMA type 1
stretching: min 3-5x/wk positioning: daily chest physio/ACT functional mobility
55
why can WBing be helpful in pts who aren't able to stand
MSK alignment lung function elongate ms to prevent any stretch contractures
56
what are 3 stretching interventions for SMA type 1
1. PROM/AAROM 2. WBing devices (ie standers) 3. orthosis/splints (>60min to overnight)
57
what are 2 positioning interventions in SMA type 1
strollers - power TIS orthosis/splint - >60min to overnight - 5x/wk to be effectivee
58
what is the duration and frequency of splints/orthoses usage to be effective
>60min to overnight 5x/wk
59
what are 2 chest PT/ACT interventions for SMA type 1
manual percussion/vibration - airway clearance vest postural drainage
60
what are 2 functional mobility interventions in SMA type 1
use of seating/mobility systems - power wc, switches, lifts mobile arm supports & environmental controls
61
why might an abdominal binder be implemented in SMA type 1
respiration
62
what are the 2 primary goals of SMA type 2
1. prevent contractures and scoliosis 2. maintain, restore, and/or promote function and mobility
63
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
64
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
65
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
66
how are PT interventions used in type 3 similar to type 2 SMA
encourage ms activation
67
what are the 3 main PT interventions for type 3 SMA
stretching LE orthoses mobility exercise
68
describe how stretching is implemented as a PT intervention in type 3 SMA
minimum of 2-5x/wk - P/AA/AROM
69
why are LE orthoses utilized as an intervention in type 3 SMA (3)
flexibility posture function distal LE
70
what are mobility and exercise interventions are implemented in type 3 SMA (5)
wc functional strengthening endurance balance environmental access
71
what should be avoided in mobility and exercise in type 3 SMA
eccentric control tasks / high impact want to avoid overexertion
72
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
73
what is an important PT intervention in all 3 types of SMA
stretching
74
what is charcot-marie-tooth disease (CMT)
inherited neurodegen dz of peripheral nerves - several types
75
what is the onset of charcot-marie-tooth dz
adolescence or early adulthood
76
what is the inheritance of CMT
autosomal dominant autosomal recessive X-linked
77
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
78
what ab the inheritance of CMT makes it more complicated
X-linked
79
how is CMT dx (4)
nerve conduction studies EMG genetic testing nerve biopsy
80
what is a classic clinical presentation of CMT
foot posturing
81
what are secondary deficits of CMT
prox hip and core ms weakness contractures, hammer toes, high foot arches
82
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
83
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
84
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
85
what are the 7 primary role of PT in NMDs
1. early screening and referral 2. gross motor/mobility training 3. attempts at early prevention of progressive contractures 4. education - safe parameters and precautions for exercise (ie avoid overexertion -> rhabdomyolysis) 5. adapted equipment as needed 6. family support 7. management of respiratory impairments

Neuro Rehab 1 (27 decks)

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