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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
Q

when is type 3 SMA dx

A

12-18mo to 3yo
- type 3a dx <3yo
- type 3b dx >3yo

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26
Q

what is the life expectancy of SMA type 3

A

normal

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27
Q

what are the functional abilities of SMA type 3

A

able to amb independently w/o AD
loss of amb during adolescence w/o treatment

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28
Q

what are 4 impairments seen in type 3 SMA

A
  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
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29
Q

what are 5 medical interventions for SMA

A

respiratory care
wt management
surgery
liquid albuterol
meds to change dz course

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30
Q

what types of SMA is respiratory care implemented in and how

A

type 1 and 2
- biPAP for some at night
- daily cough assist/suctioning

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31
Q

why is wt management a relevant medical intervention for SMA and what types is this most relevant in

A

aides movement
- in type 1 and 2, easier for them to move and for us to move them

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32
Q

what surgeries are seen in SMA and what are the indications for them

A

scoliosis
hip sublux/dislocation

optimizes:
- lung function
- sitting balance
- decrease pain

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33
Q

why is liquid albuterol a relevant intervention for SMA

A

can inc energy levels during day

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34
Q

what are the 2 main types of meds that can change the course of SMA

A

spinraza
gene therapy (zolgensma, evrysdi)

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35
Q

what are the outcomes of meds that change the course of SMA

A

able to maintain motor function longer w dec need for AD/equipment
- enables kids to live longer

36
Q

what research has been associated w the new medication treatments for SMA

A

PT-driven research

37
Q

what has been a new consideration/question now that there are meds available that change the course of SMA

A

classifications of SMA may need to change w evolving medical treatments

38
Q

what is the frequency of PT exams in SMA and why

A

every 4-6mo if possible
- bc progressive dz

39
Q

what are the 6 components assessed in the PT exam for SMA

A

ROM
posture
strength (myometry)
performance based scales
pt/caregiver reports
ADLs/equipment

40
Q

what are 3 things that the PT exam contributes in SMA

A

medical intervention and management
monitoring of effectiveness
research on effectiveness

41
Q

what are performance based scales looking at in SMA and how can caregivers be helpful with this

A

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
Q

what are 3 performance based motor function scales used in SMA

A

CHOP - intend
hammersmith functional motor scale
6MWT

43
Q

what population is the CHOP-intend test appropriate for

A

infants
type 1
weaker adults unable to sit

44
Q

what are the 4 main components looked at in the CHOP-intend test

A

head control
facilitated rolling
AG UE/LE movement
WBing

45
Q

what population is the hammersmith functional motor scale expanded appropriate for

A

type 2 and 3 SMA
>2yo

46
Q

what does the hammersmith functional motor scale expanded assess

A

measure of non amb function
amb tasks

47
Q

why was the hammersmith functional motor scale expanded

A

expanded to fit those who are ambulatory (both non-amb and amb)

48
Q

what does pt/caregiver report measure

A

typical vs best performance

49
Q

what can pt/caregiver report be important in and why

A

drug trials
- highlights meaning of change to individual / caregiver

50
Q

what are 4 patient/caregiver reports that are valid and reliable in SMA

A

SMA health index
pediatric quality of life (PEDSQL)
egen-klassification scale 2
pediatric eval disability inventory - computer adaptive test (PEDI-CAT)

51
Q

what specifically does the PEDI-CAT used in SMA look at

A

pt/caregiver report

measures participation in mobility, daily activities, and social function

52
Q

what is the functional expectation of SMA type 1

A

non-sitter

53
Q

what are the 3 primary goals of PT intervention in SMA type 1

A

optimization of function
minimization of impairment
optimize tolerance to various positions

54
Q

what are the 4 main interventions of SMA type 1

A

stretching: min 3-5x/wk
positioning: daily
chest physio/ACT
functional mobility

55
Q

why can WBing be helpful in pts who aren’t able to stand

A

MSK alignment
lung function
elongate ms to prevent any stretch contractures

56
Q

what are 3 stretching interventions for SMA type 1

A
  1. PROM/AAROM
  2. WBing devices (ie standers)
  3. orthosis/splints (>60min to overnight)
57
Q

what are 2 positioning interventions in SMA type 1

A

strollers - power TIS
orthosis/splint
- >60min to overnight
- 5x/wk to be effectivee

58
Q

what is the duration and frequency of splints/orthoses usage to be effective

A

> 60min to overnight
5x/wk

59
Q

what are 2 chest PT/ACT interventions for SMA type 1

A

manual percussion/vibration
- airway clearance vest
postural drainage

60
Q

what are 2 functional mobility interventions in SMA type 1

A

use of seating/mobility systems
- power wc, switches, lifts

mobile arm supports & environmental controls

61
Q

why might an abdominal binder be implemented in SMA type 1

A

respiration

62
Q

what are the 2 primary goals of SMA type 2

A
  1. prevent contractures and scoliosis
  2. maintain, restore, and/or promote function and mobility
63
Q

what are PT interventions in type 2 SMA and how does this change over the course of the lifespan

A

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
Q

what similarities are seen in PT interventions used in type 2 vs type 1 SMA

A

type 2 infants - working on head and trunk control

similar to what you work on w type 1

65
Q

what is the primary goal for PT intervention in type 3 SMA

A

maintain, restore, and/or promote function and mobility including adequate balance, joint range and endurance

66
Q

how are PT interventions used in type 3 similar to type 2 SMA

A

encourage ms activation

67
Q

what are the 3 main PT interventions for type 3 SMA

A

stretching
LE orthoses
mobility exercise

68
Q

describe how stretching is implemented as a PT intervention in type 3 SMA

A

minimum of 2-5x/wk
- P/AA/AROM

69
Q

why are LE orthoses utilized as an intervention in type 3 SMA (3)

A

flexibility
posture
function distal LE

70
Q

what are mobility and exercise interventions are implemented in type 3 SMA (5)

A

wc
functional strengthening
endurance
balance
environmental access

71
Q

what should be avoided in mobility and exercise in type 3 SMA

A

eccentric control tasks / high impact

want to avoid overexertion

72
Q

describe the usage of a wc in type 3 SMA

A

lightwt manual wc
- when walking not reasonable

power assist
progress to power wc/scooter prn

73
Q

what is an important PT intervention in all 3 types of SMA

A

stretching

74
Q

what is charcot-marie-tooth disease (CMT)

A

inherited neurodegen dz of peripheral nerves
- several types

75
Q

what is the onset of charcot-marie-tooth dz

A

adolescence or early adulthood

76
Q

what is the inheritance of CMT

A

autosomal dominant
autosomal recessive
X-linked

77
Q

what is the pathophys of CMT

A

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
Q

what ab the inheritance of CMT makes it more complicated

A

X-linked

79
Q

how is CMT dx (4)

A

nerve conduction studies
EMG
genetic testing
nerve biopsy

80
Q

what is a classic clinical presentation of CMT

A

foot posturing

81
Q

what are secondary deficits of CMT

A

prox hip and core ms weakness
contractures, hammer toes, high foot arches

82
Q

what are primary clinical presentations of CMT

A

ms weakness and sensory loss (progressive decline)
- atrophy observable
- location/extent depends on type

dec/absent DTRs
gait abnormality into adulthood
chronic pain

83
Q

what are 5 impairments of CMT that you would want to exam in PT exam

A

strength
ROM
sensation
posture
- alignment and LE alignment
- hammer toe
reflexes

84
Q

what are 3 activity level components you would want to exam in your PT exam for CMT

A

balance
- in standing (static and dynamic)
- gait - level, uneven surfaces, stairs
- transfers

85
Q

what are the 7 primary role of PT in NMDs

A
  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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