Lecture 17: Idiopathic Toe Walking, Duchene Muscular Dystrophy, Spinal Muscular Atrophy

Question 1

Idiopathic Toe Walking
* Diagnosis of exclusion (meaning nothing else fits) - really need to see why they’re walking on their toes - often they arent actually idiopathic toe walkers - could be things like plantar flexor clonus / heal pain
* walks on toes w/o known reason or pathology
* Can be intermittent or constant - sometimes do it sometimes don’t - so if they hace CP / clonus it wouldnt be intermittent - so this is a good way to dilinate
* Familial? genetic component 30%-42% of children w/ ITW
* Various stages of early ambulation
* Prewalking skills to within 6 months after start of independent walking
* Historically-Periods of toe walking normal component of development up to age 3 (Not common thought). - lots of Dr. will say they’ll outgrow it, but this isnt always true

Question 2

Typical gait:

Heal strike at inital contact

Three cokers of gait

What is a rocker?

Answer 2

Point during gait cycle when foot transitioning between phases

Question 3

Which rocker is this. After heel strike at inital contact when foot progresses into PF

Answer 3

First rocker

Question 4

Which rocker is this. During midstance when tibia advances over foot and pushes ankle into DF

Answer 4

Second rocker

Question 5

Which rocker is this. Late stance and push off phase as foot moves from DF into PF for push off

Answer 5

Third rocker

note that push off is what gives you speed

Question 6

Gait deviations w/ intermittent toe walking
* PF in stance and swing phases of gait
* Shorter step lengths - because they have minimal propulsion
* Increased anterior pelvic tilt - they’re trying to find their balance point
* Knee hyperextension during stance phase - increased PF = increased hyperextension
* Excessive midfoot pronation coupled with hindfoot eversion and/or out-toeing during stance phase (just when toe is out)
* Frequently lack first and second rockers - if you don’t have heal strike theres nothing to advance (first rocker)
* Decreased third rocker
* Early heel rise - if foot does hit the ground they’ll have early heel rise

Question 7

to check and see if other things might be at play

Question 8

Question 9

Comorbidities for idiopathic toe walking

speech delay = something else going on in their body

dont memorize any of these

autism = sensory issue that makes them walk on their toes (dont like the way the ground feels)

Question 10

PT interventions for Idiopathic toe walking

ankle foot alignment = pull on bones not what we would expect it to be

can use joint mobilizations on kids

Question 11

use modified ashworth to see if they have PF tone to see if thats causing the toe walking

Question 12

Stretching for idiopathic toe walking

Nighttime splinting

Night stretching AFOs combined with knee immobilizers (because they’ll bend knee and wont get as much stretch)

Prolonged, static stretch of the gastrocnemius muscle

Daytime orthotic:
* Toe walking greater than 25% of the time
* Need to maintain ROM and gait gains following serial casting or surgical intervention

Orthotic interventions
* AFOs
* Supramalleolar orthoses
* Shoe inserts
* Carbon foot plates

Question 13

Ankle DF w/ Knee extension less than 0 degree tx:

Answer 13

1) Traditional stretching and strengthening protocols may not be effecting in increasing ROM - because they have so little

2) Serial casting my be best option to imprive ankle ROM

So this is the worst one I think, not you could be way worse than 0 (think actually being stuck in some PF)

Question 14

Ankle DF w/ Knee extension ROM 0 to 5 degrees tx:

Answer 14

1) Night splinting
2) PT
3) Manual therapy
4) Therapeutic exercise-stretching, gait training, and balance training

Question 15

Ankle DF w/ Knee extension ROM 5 to 10 degrees tx:

Answer 15

1) Night stretching and bracing
2) Articulating AFO - dont want anything solid because you want them to keep getting range - will stop them from PF but unlimited DF - so stretching w/ every step
3) Therapeutic exercise: Streching, strengthening, gait training, balance training

Question 16

Ankle DF w/ Knee extension > 10 degrees

Answer 16

day time, articulating FOs w/ weaning to use of carbon footplates

Stretching
Strengthening
Gait training
Balance training
Auditory feedback - cue for when they have heal strike - can be shoes that squeak everytime they get their heal down
Manual therapy

Question 17

What DF range do you want at inital contact?

Answer 17

10-20

Question 18

same thign

Question 19

for idiopathic toe walking

Question 20

Spinal muscular atrophy:
* Group of autosomal recessive disorders
* Mutation or deletion of survival motor neuron 1 (SMN1) gene
* Characterized by:
* Degeneration of anterior horn cells of the spinal cord (LMN)
* Muscle atrophy
* Widespread weakness
* Absent deep tendon reflexes
* Sensation and cognition not typically impaired
* 1 of every 10,000 live births
* Four classificatios

so its genetic

Question 21

Most severe form of spinal musuclar atrophy

Answer 21

type 1-acute werdnig-hoffman disease

Question 22

Spinal Muscular Atrophy Type 1
* Most severe form
* Earliest onset
* most rapid demise
* This is 50% of all children diagnosed w/ SMA
* Manigests before 6 months og age
* children will not achieve the ability to sit unsupported
* Death by age 2 typical
* Recent pharmacological dramatic change in life expectancy
* Nusinersen (Spinraza) - but very very expensive

Question 23

Spinal Muscular Atrophy - Type 2 - Chronic Werdnig-Hoffman disease
* Symptoms typically occur between 7 and 18 months
* most able to sit independently
* May stand and walk short distances with assistive devices
* Typically do not stand independently functionally
* May live into adulthood with proper treatment and monitoring of pulmonary function

Question 24

Spinal Muscular Atrophy - type 3 - Kugelberg-Welander Disease
* Milder forms of spinal muscular atrophy
* Later onset and variable levels of disability
* Symptoms typically develop by age 18
* May. hvae a typical lifespan
* May walk independnetly or with an assistive device into late adolsence or early adulthood before transitioning into a wheelchair

Question 25

Spinal muscular atrophy type 4 * Develop symptoms into adulthood * May continue to walk until a later age

Question 26

Is Spinal musuclar atrophy LMN or UMN?

Answer 26

LMN - because its the anterior horn cells which are the cell bodies of the peripheral nerves extending out anyone who doesnt move as much has GI dysfunction don't have active support resp system = restrictive lung disease | remember, its LMN so derieve them that way

Question 27

tx for spinal musuclar atrophy

Question 28

Type 1 SMA - rememebr, this is the severe one * Improve or maintain respiratory function * Encourage developmental milestones * Minimize ROM limitations * Improve feeding and swallowing mechanics * Exercise benefical in mouse models -little evidence in children (so exercising w/ type 1 unmedicated doesnt make any change) biggest goal here is head control for suck, swallowing, breathing do not expect walking w/o medictions

Question 29

Type 2 SMA benefit from interventions that prolong ambulation (because they lose this at some point) Scoliosis progression rapidly as children with neuromuscular diseases become nonambulatory (muscles cant hold you up so you hang on your bones) Curve progresses-Decline in respiratory function-surgical intervention PReventing contractures in type 2 or 3 SMA very difficult to impossible Some decline in ROM is inevitable once they stop walking for any period of time they lose it really quickly scoliosis starts really quickly when they stop walking = respiratory problems

Question 30

Type 3 SMA * Can outgrow their muscles; capacity and begin to lose function - muscles didnt get weaker, they just end up bigger than muscles can handle (so we want to get them on the smaller side to keep them ambulating) * Strengthening, nutrition, and wt management education * Traditional growth charts inappropraite due to decrease in lean m mass * **Education in energy conservation techniques to prevent fatigue and falls.** - so some wheel chair and some normal walking to conserve E

Question 31

so we want to get them a power chair should be smart cognitvely

Question 32

Zolgensma Gene Therapy - first line gene therapy For muscular dystrophy?

Question 33

Duchenne Muscular Dystrophy * Most common one * Fatal * Progressive weakness of the skeletal and respiratory muscles * Progressive/degenerative disease * Typical life expectancy-20 to 30 years * X linked recessive * 1 of every 3,600 to 6,000 live births * Gene encodes production of protein dystrophin-linked to muscle function * Males have DMD - mostly males * Females Carrers-Can pass disease on and may exhibit muscle weakness and cardiomypathy (much milder than males) * Muscle changes - changes in composition * Genetic and blood composition abnormalitites are present * Genetic testing confirming diagnosis - so can confirm w/ genetic testing * Language delay and later cognitive difficulities

Question 34

W/ Duchenne Muscular Dystrophy the develop typically at first. No symptoms. Then they have a regression. They have ambulation then lose it

Question 35

What are the 5 stages of Duchenne muscular dystrophy? * How do these kdis present? * first sing of DMD? * When is ambulation typically lost

Answer 35

1) Presymtomatic stage 2) Early ambulatory stage 3) Late ambulatory stage 4) Early nonambulatory stage 5) Late nonambulatory stage generally clumsy - once they start having symptoms May walk on their toes - not idiopathic toe walking Gross motor regression over time First sign of DMD often delayed walking beginning around 18 months of age Ambulation lost by 12

Question 36

**What is Pseudohypertrophy?** - test * What disease does it come w/? * **Whats impacted more, proximal musculature or distal? **

Answer 36

Comes w/ Duchenne Muscular dystrophy Enlargement without increased strength in calf (so large weak calves) * because the muscular is now full of fat (different muscular composneition) presents later in development appearance of strong muscles **Pattern of weakness affects proximal musculature greater than distal** * test question so proximal weakness starts first * huge weak calves + proximal weakness makes us think DMD

Question 37

**What is Gowers sign** - test

Answer 37

Extremitites to manually assist knee extension by "walking" hands up the LE when moving from floor to standing * have a hard time getting up from floor because they have proximal weakness in core - for DMD

Question 38

DMD Inital proximal muscular weakness Results in other atypical movement patterns Can lead to soft tissue contractures Adopt a wide BOS * Maximize balance * Use biomechanical alignment to maintain upright position w/ least msucular effort Knee hyperextension and icnreased lumbar lordosis * move center of gravity in front of knee joint to reduce need for active quadriceps contraction Toe walking to take advantage of joint end range as means of stability Alignment changes * Equinus contractures of the ankles * Hip flexion contractures * Iliotibial band contracture

Question 39

longer they walk = decreased risk of scoliosis Maintain ROM w/o damaging the msuculature - because once you damage it you cant get it back Alignment - make sure thye stay alligned to prevent joint deformitites end up w/ lots of respiratory disease this kids get tons of steriods to keep them walking longer * osteoprosis * wt gain * increases blood sugar = increases risk for all kinds of other things * likely to have cushings (moon face etc...) Increase pulmonary function * positioninal drainage * EX * breathing techniques

Question 40

PT management DMD **Avoid agressive strengthening** - once you dmaage the m you really cant fix it (composition is fucked) **Avoid eccentric contractions** * Mechanically induced damage high stress on fragile membranes and provokes microlesions * Leads to loss of calcium homeostasis and cell death interventions change as ages/progresses AFOs rarely used - because weakness is proximal - distally they still have strength for a while * Prevent children from using compensatory mechanisms * Adds additional wt Orthortic management for contracture management Atypical compensatory movements to compensate for weakness - so dont fix it if its the only way they can function (keep atypical gait pattern because if its functional its proably the best one you're gonna get) Equipment management-standers, wheelchairs, and bath chairs Education appropraite home ex program Aquatic programs monitored for overexertion Allow to be active and paly w/ peers Encourage stop when tired

Question 41

showing cushings gold standard for DMD

Question 42

some of these can be female she didnt really go through this much

Question 43

weakness w/ different types of musuclar dystrophy Notice how duchenes is more proximal than distal (I guess trunk is not imapcted) NOTE: they're always symmetrical

Question 44

kids w/ pain

Question 45

inconsolable = cannot get them stop crying Dont need to memorize just know what it looks at (cries scale = looks at pain level) - and know it looks at crying, O2, increased vital signs, expresion, sleepiness

Question 46

behavior scales = for kids that are nonverbal and cannot report

Question 47

Question 48

Self reporting pain scales Wong-Baker Faces scale (next slide) * Developed for children between 3 and 7 years of age - now used for all ages - pick faces depnding on the pain level * Pick from five different faces according to the pain level * Scores range from 0 to 10 Viusal analog scale * use of a 100 mm line with a mark made on the line dicating pain score -shown below mark where the pain is Color analog scale

Question 49

Question 50