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Neuro Rehab 1 > NMD Part 2 > Flashcards

NMD Part 2 Flashcards

1
Q

what are muscular dystrophies

A

group of hereditary ms dz that weaken (primarily) skeletal ms of body

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2
Q

what are muscular dystrophies characterized by (3)

A
  1. progressive skeletal ms weakness
  2. defects in ms proteins
  3. death of ms cells & tissue
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3
Q

what is the prevalence of muscular dystrophies in childhood

A

comprises largest and most common group of inherited progressive neuromuscular disorders of childhood

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4
Q

what is the genetic inheritance of duchenne muscular dystrophy

A

x-linked recessive

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5
Q

what is the typical onset of duchenne muscular dystrophy

A

1-5yo

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6
Q

what is the course of the dz for duchenne muscular dystrophy

A

rapidly progressive
loss of walking typically by 9-10yo
death in late teens

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7
Q

what are 3 primary s/sx of muscular dystrophies

A
  1. insidious onset of ms weakness
  2. ms fatigue
  3. exercise intolerance
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8
Q

what are 5 secondary impairments of muscular dystrophies

A
  1. contractures
  2. postural malalignment, including scoliosis
  3. changes in appetite
  4. pain
  5. sleep apnea
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9
Q

what are 4 additional s/sx of muscular dystrophies

A
  1. ms cramping/pain
  2. ms twitching/fasciculations
  3. ms wasting (atrophy vs pseudohypertrophy)
  4. hypotonia
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10
Q

why does ms cramping occur in muscular dystrophies

A

contractile properties of these ms are changed and inefficient and ineffective

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11
Q

where will we expect to see contractures in muscular dystrophies and why

A

hip flexors & hamstrings
- if dec strength, sitting a lot

gastroc/PF
- lying in supine, gravity pushes into PF

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12
Q

what is the incidence of duchenne’s in males vs females

A

primarily in males bc linked to X

rare for females to manifest clinical sx
- if they do it’s very mild

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13
Q

what is the pathophysiology of DMD

A

mutation in dystrophin gene -> 1 or more exons (part of gene) are missing

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14
Q

what is the role of dystrophin in cells

A

mechanical stabilization of cell membrane

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15
Q

what does the mutation in the dystrophin gene result in

A

ms cell destruction d/t abnormal or missing dystrophin & its effect on the cell membrane

-> progressive loss of ms contractility d/t destruction of myofibrils

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16
Q

how many cases of DMD are new mutations

A

1/3

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17
Q

if the mom is a carrier of DMD, what is the risk for her son or her daughter of having DMD

A

son - 50% chance of inheriting DMD

daughter - 50% chance of being a carrier
- carrier may be mildly affected

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18
Q

what is the inheritance of BMD

A

x-linked recessive

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19
Q

BMD vs DMD in pathophys

A

BMD has same gene affected but some dystrophin is present

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20
Q

BMD course of dz compared to DMD

A

less severe and more slowly progressing than DMD

avg age of sx onset is later than DMD

amb longer (20s-30s) and longer lifespan than DMD

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21
Q

what is one clinical manifestation that is more common in BMD than DMD

A

cardiac myopathy

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22
Q

what are lab tests used to diagnose both DMD and BMD

A

CK values (high)

ms biopsies
- detect degen/regen of ms fibers, fibrosis, & fatty infiltrates

blood tests - detect mutation of dystrophin gene

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23
Q

why are blood tests a better option than ms biopsies

A

ms biopsies - damage ms that is already fragile

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24
Q

what is Gower’s sign

A

so weak that use hands to walk up legs to push up to stand and then stand up to lumbar lordosis

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25
Q

what is pseudohypertrophy

A

ms tissue replaced by adipose and collagen
- can create ms/joint contracture

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26
Q

what does neck flexor AG in DMD and BMD look like

A

significant head lag

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27
Q

what are 3 things that show up in a clinical exam to diagnose DMD and BMD

A

(+) Gower’s sign

calves - stiff, firm, pseudohypertrophy

motor difficulties - including neck flexor weakness

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28
Q

what is the criteria for ordering CK labs in the diagnostic guidelines for DMD

A

more than 3 sx over 2 or more categories (motor milestone delay, unusual gait, speech delay)

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29
Q

what are 3 ex of delayed motor milestones seen in DMD

A
  1. unable to walk by 18mo
  2. unable to jump by 2.5yo
  3. unable to run by 3yo
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30
Q

what are 3 ex of how unusual gait my present in DMD

A
  1. tiptoe walking
  2. frequent falling
  3. difficulty climbing steps
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31
Q

what are 3 ex of how speech delay may present in DMD

A
  1. no words spoken in first 18mo
  2. unable to speak sentences by 3yo
  3. any input from speech services (SALT)
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32
Q

what are 3 red flags identified in the diagnostic guidelines for DMD

A
  1. enlarged calf ms
  2. any ms pain/cramps
  3. any episodes of cola-colored urine
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33
Q

what can cola-colored urine indicate

A

rhabdomyolysis

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34
Q

what is a consideration with family planning and DMD

A

not unusual to have more than one boy w this condition in the family
- slower onset, could have another child by time dx the first

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35
Q

why is scoliosis seen in DMD and BMD

A

as lose trunk musculature, collapse into gravity

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36
Q

what are 3 medical interventions for DMD and BMD

A

no curative treatment
oral corticosteroids
anti-hypertensives
RNA therapy & exon-skipping

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37
Q

what are indications for oral corticosteroids in DMD and BMD (4)

A

prolong amb
reduce decline in CP function
reduce risk of scoliosis
improve life expectancy

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38
Q

what is the importance of oral corticosteroids in comparison to other medical interventions of DMD and BMD

A

SOC in early amb phase

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39
Q

what are 3 side effects of prednisone & defiazacort

A
  1. inc appetite and fluid retention
  2. behavior changes, irritability/outbursts, reduced attention
  3. reduced bone health - inc risk of fx
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40
Q

why are anti-hypertensives utilized in medical management of DMD and BMD

A

cardiomyopathy
- more common in BMD than DMD

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41
Q

what is the goal of RNA therapy & exon skippping

A

inc dystrophin levels
- > alter genetics to have DMD present more like BMD

amb and life expectancy prolonged

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42
Q

how does RNA therapy and exon skipping work

A

medication is exon specific
- fosters RNA replication to produce dystrophin

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43
Q

who is RNA therapy and exon skipping used in

A

pts w DMD w specific mutations

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44
Q

what are the preliminary results of RNA and exon skipping

A

inc dystrophin production
- effects on motor function TBD

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45
Q

what is the timeline progression of DMD in 5 steps

A

healthy bith
weakness noted 3-5yo
loss of amb by 9-12yo
- initiate use of light wt wc
power wc dependent 12-14yo
death 20-30yo

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46
Q

what is death caused by in DMD

A

cardiopulmonary complications

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47
Q

as weakness from DMD presents at ages 3-5yo, what are 4 other manifestations also seen

A

waddling gait
difficulty moving floor>stand
difficulty keeping up w friends
toe-walking

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48
Q

if you see a child w DMD toe-walking what is this likely telling you

A

gastroc is effected

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49
Q

what are 3 BSF impairments seen in ambulatory years of DMD/BMD

A

posture
ROM - progressive ms/joint contractures
strength

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50
Q

what does posture in DMD/BMD look like

A

calf pseudohypertrophy
- pushes them on toes and into lordosis
inc lumbar lordosis
- weak abdominals
scap winging

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51
Q

why are impairments in ROM seen in amb years in DMD/BMD

A

weakness & ms fibrosis

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52
Q

what ms will have progressive contractures in amb yrs of DMD/BMD (4)

A

gastroc/soleus
hamstrings
hip flexors
ITB

53
Q

how do UE ms ROM impairments present in amb yrs of DMD/BMD

A

early tightness in forearm pronators & long finger flexors
- UE relatively spared

UE contractures will worsen once non-amb

54
Q

how does strength impairments present in amb yrs of DMD/BMD

A

UE and trunk preserved longer/more than LEs

55
Q

what are the 3 main impairments that develop in non-amb yrs of DMD/BMD

A

postural changes
UE contractures/weakness
pulmonary function decline

56
Q

what is the importance of keeping pts w DMD/BMD amb as long as possible

A

large impact on pulmonary function
- and also contractures

57
Q

how do postural change impairments present in non-amb yrs of DMD/BMD

A

losing trunk control/strength
- succumbing to gravity
- can see some twisting

58
Q

what are 2 impairments in non-amb yrs of DMD/BMD that largely impact w/c positioning and how

A

postural changes
LE contractures
- eg equinovarus, pelvic obliquity

59
Q

how can UE contracture/strength impairments in non-amb yrs of DMD/BMD

A

impact ADLs, driving power w/c

60
Q

what is the incidence of cardiomyopathy in DMD & BMD

A

DMD: 90% pts exhibit abnormalities in ECG

BMD: more common than in DMD

61
Q

what are behavior concerns in DMD/BMD (6)

A

limited attention
difficulties w mental flexibility
difficulties w executive functioning
autism (3-18%)
reactive depression/anxiety

62
Q

what are multisystem concerns for DMD/BMD

A

cardiomyopathy
behavior management
GI motility limitations

63
Q

how does motor skill development present in early childhood & what is it influenced by

A

still progress in motor skill development BUT:
- clumsy, falls
- difficulty keeping up w same-age peers w running/climbing
- higher level GM skills like single-limb hop may be difficult
- floor to stand transfers present as Gower’s maneuver

influenced by progression of ms weakness prox>distal; LE>UE

64
Q

how does motor progression present in infancy for DMD

A

may have mild delay in motor milestones

65
Q

how does motor progression (ie specific activity limitations) present in elementary to adolescence for DMD

A

floor to stand - (+) Gowers
amb - dec distance amb
- quick to fatigue/fall
stairs - inc difficulty
overhead activities (dressing, bathing)
- quick fatigue

66
Q

when do motor skills plateau in DMD

A

~7yo

67
Q

how does motor progression (ie specific activity limitations) present in adolescence for DMD & primary means of mobility

A

loss of amb & independent transfers by ~10-13yo

manual wc w power assist
- progress quickly to power mobility

68
Q

how does motor progression (ie specific activity limitations) present in early adulthood for DMD

A

more rapid loss of UE and respiratory function

UE - transition from standard joystick to adapted power

respiratory - transition from BiPap to tracheostomy

69
Q

why is there a transition to a power wc from manual in DMD

A

gradual decline in UE ms function
- loss of hand intrinsics

70
Q

what is the primary manifestation for carriers of DMD/BMD

A

no s/sx

71
Q

what are 2 purposes of PT exam in DMD and BMD

A
  1. track natural dz progression over time
  2. track changes w therapeutic and/or medical interventions over time
72
Q

what is a key consideration with DMD and BMD when it comes to pt education

A

child might not know they have the dz
- must ask primary caregiver if okay to discuss

73
Q

what clinical observations are made in the PT exam of DMD and BMD (4)

A

general age-level mobility skills
- amb/gait
- stairs
- floor-to-stand and reverse
- running, jumping, single leg balance

74
Q

what are 5 tests/measures used most commonly in DMD

A

Activity SINGLE TASK:
6MWT
timed testing - 10m walk, STS, Gowers, 4 stairs

Activity MULTIPLE ITEMS:
Northstar amb assessment
Performance of upper limb
Brook Upper Limb Scale

75
Q

what test/measure used in DMD is specific just for MD

A

the performance of upper limb

76
Q

what two tests/measures assess upper limb function in DMD/BMD

A

performance of upper limb (PUL)
brooke upper limb scale (screening tool)

77
Q

what are 2 timed function tests used in DMD and BMD

A

timed floor to stand
timed up/down 4 steps

78
Q

what are 2 timed walk & run tests in DMD and BMD

A

6M
10M

79
Q

what 6MWT result is predictive of greater functional decline

A

baseline 6MWT <350m

80
Q

how do 6MWT times in DMD compare to norms w TD

A

until 7yo - DMD distance inc w age/growth in TD
- DMD distance <80% of TD

7-8yo
- DMD distance plateaus, then declines linearly w age
- TD - inc w age

81
Q

what does research say ab the results of timed function tests in DMD and how can this information be utilized

A

expect decline in function related to amb

can use outcome tests to get a sense of when will lose ability to amb and plan ahead

82
Q

what is the purpose of the North Star Ambulatory Assessment (NSAA)

A

measure functional motor abilities in amb children w DMD
- intended to be more clinically meaningful vs MMT

83
Q

what does a total score >18 on the NSAA indicate

A

lower risk of losing ambulation in next 2yrs

84
Q

Brooke UE functional rating scale vs PUL

A

Brooke - very functional based, screening tool

PUL - specific to MD

85
Q

what does the Brooke UE functional rating scale assess

A

grades UE function, reflecting prox to distal strength

86
Q

what do higher scores on the Brooke UE functional rating scale indicate

A

less function

87
Q

what does the PUL assess

A

looks at strength/control at shoulder, elbow, and hand

88
Q

what values at what age have been associated with greater functional decline in amb within 12mo (5)

A

at 7yo
- 6MWT <325m
- time to stand >30sec
- time to climb 4 stairs >8sec
- 10M walk/run >10-12sec
- NSAA raw score <9pts

89
Q

what are the 3 main interventions that PT provides

A
  1. prevention of contracture and deformity
  2. splinting/bracing
  3. exercise and activity
90
Q

what 3 spots are prevention of contracture and deformity PT interventions focused on initially

A

gastrocs
hip flexors
hamstrings

91
Q

when does prevention of contracture and deformity start

A

young age

92
Q

what are 2 types of interventions that work to prevent contracture and deformity

A

1-2x ACTIVE daily ROM; gentle PROM
static stretch

93
Q

what is a concern and consideration with doing PROM as an intervention to prevent contractures/deformities

A

potential mechanism of damage
- important to do it gently

94
Q

what are 3 interventions employing static stretch to prevent contracture and deformity

A

prone positioning
night splints
serial casting

95
Q

why does prone positioning help to prevent contractures

A

gets you into hip ext and gravity lengthens hamstring
- doesn’t help gastrocs but addresses other high risk areas (hip flexors, hamstrings)

96
Q

what evidence is out there for the use of night splints to prevent contractures

A

combined intervention of splint & ROM is more effective in slowing contraction and a longer duration of amb

97
Q

what evidence is out there for the use of serial casting to prevent contractures

A

effectiveness in ambulatory boys in improving DF w no interference in function

98
Q

what is the window of effectiveness for casting

A

fixed PF contracture 15-20deg

99
Q

what is the goal of splints and bracing

A

to improve/maintain ROM

100
Q

what is one consideration of splints/bracing

A

likely will not aide in amb
- may inhibit gait d/t prox weakness

101
Q

why would we be okay with a pt w MD toe walking

A

toe walking is an effective compensatory strategy for prox weakness

102
Q

when is likely the most optimal time for wearing splints

A

at night for a sustained stretch

103
Q

what are DMD and BMD pts at a high risk for

A

rhabdomyolysis

104
Q

what is rhabdomyolysis

A

rapid breakdown of skeletal ms tissue d/t mechanical, physical or chemical traumatic injury

105
Q

what can rhabdomyolysis result in

A

acute renal failure
fatal heart arrhythmias

106
Q

what is the pathology behind rhabdomyolysis that can lead to cola colored urine

A

when ms proteins released into blood, one of these proteins (myoglobin) can precipitate in kidneys which spills into the urine

107
Q

how can rhabdomyolysis cause acute renal failure

A

if massive skeletal ms necrosis occurs, reduced plasma volumes leads to shock and reduced blood flow to kidneys resulting in ARF

108
Q

how can rhabdomyolysis lead to fatal heart arrhythmias

A

injured ms leaks potassium
- hyperkalemia may cause fatal disruptions to heart rhythm

109
Q

since pts w MD are at high risk for rhabdomyolysis, what is a pt education consideration

A

important to teach them and their families & how we go ab exercising

110
Q

what are 2 things that are contraindicated for exercise and activity in MD pts

A

avoid overexertion
avoid eccentric and high-resistance exercise

111
Q

what are 2 good exercise/activity interventions to recommend in MD

A

consider cycling/aquatics
encourage standing/walking w/i safe parameters

112
Q

why are aquatics beneficial in MD

A

dec body wt in water b/c buoyancy

113
Q

in early stages of MD (aka amb stage), what exercises are implemented & why

A

low resistance strength training - less damaged fibers

inspiratory breathing exercises
- reduce loss of VC

conditioning - active exercise via UE/LE ergometry

114
Q

what is an exercise intervention in MD that should be avoid specifically if later in life

A

inspiratory breathing exercises
- may be hazardous if not in amb stage

115
Q

what should PT or other caregivers in child’s life be monitoring for in MD

A

monitor spin for neuromuscular scoliosis

116
Q

what are 2 important pt education points

A
  1. guarding - fall/injury prevention
  2. discuss - wheeled mobility as amb becomes more difficult
    - what is safe
117
Q

what are 5 considerations of a wc evaluation

A

power
standing feature
reclining back
controls
accessibility considerations

118
Q

what is training will be needed in adolescence and adulthood and how will it evolve as the person w MD gets older

A

transfer training
- DMD often dep by 12+yo
- will regress from stand pivot to 2 person lift to mechanical lift

119
Q

what are 4 justifications for passive standing (ie wc that has a standing feature) and which one is #1

A

1 contracture prevention**

WB and bone mineral density
positioning for function
pressure relief

120
Q

autosomal recessive vs dominant

A

autosomal recessive - 1 copy of gene from each parent needed for child to have condition

dominant- only need 1 copy total from either parent

121
Q

what is the onset of CMD

A

in utero or w/i 1st yr

122
Q

what is the first sign of CMD

A

low ms tone

123
Q

what is the inheritance of CMD

A

autosomal recessive or de novo autosomal dominant

124
Q

describe the dz course of CMD

A

progressive, may be slow
w/c dependent w/i lifespan

variable course depending on specific type
- developmental achievement varies
- lifespan varies form 1yo to young adulthood

125
Q

what are the 4 main PT interventions for CMD

A
  1. contracture prevention and management
  2. functional mobility management
  3. functional strengthening to tolerance
  4. education
126
Q

what are 4 interventions to prevent and manage contractures in CMD

A

orthoses
standers
bivalve casts
TLSO

127
Q

what is the goal of functional strengthening to tolerance in CMD

A

to improve head and trunk control

128
Q

what are 3 important education points for CMD

A

positioning
facilitation of motor development
chest PT and postural drainage

Neuro Rehab 1 (27 decks)

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