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Pediatrics > Muscular Dystrophy: Exam 2 First Lecture > Flashcards

Muscular Dystrophy: Exam 2 First Lecture Flashcards

1
Q

Muscular Dystrophy Defined

A
  • MDs: Group of disorders that result in muscle weakness and a dec. in mm mass over time due to destruction of myofibrils which impairs mm contractility
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2
Q

PRIMARY issue w/ MD

A

WEAKNESS

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3
Q

2* Issues w/ MD:

A
  • Jt contractures
  • Postural mal-alignment
  • Decd respiratory capacity
  • Fatigability
  • Obesity
  • Slightly lower IQ
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4
Q

MD

Phys mgmt is CRUCIAL

A

QOL

Lifespan

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5
Q

9 Forms of MD:

A
  1. Duchenne
  2. Becker
  3. Congenital
  4. Facioscapulohumeral
  5. Congenital Myotonic
  6. Emery-Dreifuss
  7. Limb-Girdle
  8. Oculopharyngeal
  9. Distal
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6
Q

MOST COMMON FORM OF MD

A

Duschene Muscular Dystrophy “DMD”

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7
Q

Duschene Muscular Dystrophy “DMD”

Passed onto sons how

A

X-linked recessive inheritance pattern and is passed on by mother→sons

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8
Q

DMD causes

A
  • Abnorm/missing dystrophin (PRO in MD)
  • Mechanical weakening of sarcolema
  • Inapprop. Calcium uptake

ALL DESTROYS MUSCLE FIBERS

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9
Q

Duschene Muscular Dystrophy “DMD”

NO CURE BUT…

A

Meds such as steroids and dystrophin replacing agents help to prolong worsening effects

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10
Q

Duschene Muscular Dystrophy “DMD”

Life expectancy

A

Early 30s

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11
Q

DMD Clinical Presentation

Infancy→Preschool

A
  • Typ NO SIGNS or impairments
    • MOST late walkers
      • ~18mos
  • Can be dx’d early if family hx
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12
Q

DMD Clinical Presentation

Early School Age (4-5yo)

A
  • Dx usually made (~5yo)
  • Pseudohypertrophy
    • fake mm mass, most prom. in calves→ mm fibers replaced by fat as mm deteriorates
  • Clumsiness, falls, inability to keep up
    • Lateral sway w/ running
    • (+) Gowers
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13
Q

DMD Clinical Presentation:

6yo

A
  • Rising from floor + stairs become major functional limitation
    • REGRESS to step-to== RED FLAG!!!
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14
Q

DMD Clinical Presentation

***8yo

A
  • Progressive gait changes develop 2* progressing weakness:
    • INC BOS
    • Compensatory lordosis
      • weak core→ hang out on ligs
    • Compensated Trendelenburg
    • Decd reciprocal arm swing
      • OR excessive to make up for trunk rotation loss
    • Toe walking
      • compensatory strategy for prox. weakness
      • calf tightness later
    • In-toeing
    • Fatigue
    • Pulm impairs w/ decd VC
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15
Q

Gower’s Sign

A
  • Occurs when weakness of prox. limbs impairs ability to rise from floor
  • (+) Gower’s→ presents when pushing up from standing via “walking” arms up legs to gain upright pos.
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16
Q

Gower’s Sign + End result

A

NOTE: Excess PF + knee EXT/HyperEXT

Toe-out

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17
Q

DMD Primary mm’s impacted:

A

Typ proximal muscle weakness

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18
Q

DMD PT Eval

Strength

A

May be eval’d w/ MMT

Dynamometry found BEST for this pop.

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19
Q

DMD PT Eval

ROM findings:

A
  • Appears first→ mild gastroc and TFL tightness
  • Incd lordosis== loss of pelvic mob.
  • *Limitations not typ seen before age 5
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20
Q

DMD PT Eval

Approp. Standardized Assess. Tools

KNOW THIS ONE FOR DMD*****

A

Vignos Functional Rating Scale

*activity limitation

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21
Q

DMD PT Eval

Approp. Standardized Assess. Tools

A
  • PEDI
  • SFA
  • Barthel
  • EK Scale (body function)
  • ****Vignos Functional Rating Scale (activity limit.)
    • KNOW IT!!!
  • QoL Measures (specifically as disease process hastens)
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22
Q

Vignos Functional Rating Scale for DMD

*activity limits

Understand lvl of “1. least limits” vs. “10. most limits”

A

see pics

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23
Q

80% DMD cases develop scoliosis after loss of amb.

How can we prolong this?

A

Maintaining upright walking!!!!!

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24
Q

DMD PT Eval

Respiratory status

A
  • Chest wall excursion, RR, cough/clear secretions, VC, inspirometer
  • Informal: bubbles, tissue blow, cotton ball blow w/ straws→ monitor time and document quality
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25
Q

DMD PT Eval

standardized Endurance Test for DMD

A

10 Meter Walk Test

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26
Q

DMD PT Eval

Endurance

A
  • 6MWT, 2MWT
  • PEDS RPE during functional tasks
  • TUG PEDS
  • 10 Meter Walk Test→ Standardized for DMD*****
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27
Q

DMD PT Eval

Pain

A

FACES

Standard VAS

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28
Q

DMD PT Eval

Coordination

A

Testing often inaccurate 2* weakness impairing mvmts

Ex. walk in a way that works for them

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29
Q

DMD PT Eval

Sensation

A

Generally normal

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30
Q

DMD PT Eval

Mobility

A

Look @ mobility and current DME use

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31
Q

DMD PT Eval

participation restricts:

A

Across lifespan

*mostly school/family

*some vocational

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32
Q

Typical Clinical Presentation @ Eval

DMD

A

see pics

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33
Q

_____ may be the FIRST to ID classic warning signs of DMD

A

PT!!!!

34
Q

DMD PT Tx

A
  • Tx initiated @ Dx OR Before
    • PT may be first ones to notice
  • Goals of Tx across lifespan:
    • maintain ROM/slow onset of tightness
    • maintain/slow loss of muscle strength
    • Maint. resp health
    • approp. compensations
    • Educate!!!!!**** get them involved
35
Q

Long term steroid use side effects

A

Myopathy

OP

DM (blood glucose disregulation)

36
Q

Major PT Considerations for DMD

Strengthening controversy

A

OVERdoing it will cause mm breakdown and further effects of disease

37
Q

Major PT Considerations

_______ exercise programs recommended

A

SUB-maximal

38
Q

DMD

Sub-maximal exercise programs recommended

A
  • Emphasize→ abdoms, hip exts, ABDs, knee exts
  • Generally safe→ isometrics, open-chain acts.
  • Avoid→ Sit-ups, ALL resistive, fatiguing, ECC. exercise
  • Avoid/modify→ Phys fitness gym tests
  • Detrimental→ Immob. after injury (weakens already weak mm)
39
Q

Avoid ECCENTRICS in DMD

T/F?

A

TRUE!!!!!

40
Q

Tx for Maintaining ROM

Contracture Mgmt

A

PRIMARY FOCUS @ EARLY STAGES*

  • Positioning/ROM immediately
    • gastroc/soleus and TFL***
  • Hip flexors lose length over time
    • LLLD, bracing, positioning device
  • Gen Recommendations:
    • NEVER PAINFUL!
    • GENTLE!!!
      • incd risk of tissue injury 2* loss of myofibrils and replacement w/ connective tissue****
41
Q

Maintaining ROM

Positioning

A
  1. Night splints
    1. leads to longer pd of IND amb.****
    2. ROM + night splints==more effective slowing contracture
  2. Serial casting
    1. shorter, more freq, on/off
  3. Prone
    1. Slows hip flex contractures→ esp if WC for mobility
42
Q

Additional PT Tx’s

A
  1. Walking programs→ we want to walk as long as possible!
  2. Cycling/swimming
  3. Amb/standing 2-3h/day
  4. Breathing ex’s
  5. E-stim
43
Q

Additional PT Tx’s

NOTE: these children will steadily decline despite our best efforts

A
  • Later stages
    • Pulm health and positioning==Primary Focus of PT tx
  • help w/ home mods and DME rx
44
Q

DMD ambulation typ lost when?

A

10-12yo

45
Q

DMD

Scoliosis and contractures worsen @ this point

A

When walking ability ends

46
Q

When walking ability ends..

Adolescence

A
  • Amb typ lost (10-12yo)
  • WC loco.
  • Scoliosis + contractures worsen
  • Progress. weakness
  • IND lost
  • Incd burden of care

Sx usually recommended for misaligns.

Depression/decd social interactions

47
Q

DMD Mobility Considerations

Those who will want to continue a standing/walking program:

A
  • Orthotics (HKAFOs/KAFOs), standing frames,
  • Good to maint. bone density and dec fx risk, circulation, B&B
  • AFOs controversial
    • reduce compensations (they may be used to)
    • adds wt.
48
Q

DMD Mobility Considerations

Those who choose to become WC users…

A
  • WC vs scooter
  • pt/family wants and $$$
  • Shoulder weakness→ motorized vs manual wc
49
Q

DMD Timeline

A

slide 22****

50
Q

DME Recommendations

A

Walkers, scooters, manual vs power WC

Hospital beds, chest PT equip.

51
Q

Becker Muscular Dystrophy “BMD”

A

VARIANT of DMD w/ slower progression

52
Q

Becker MD think…..

A

can walk past 16yo

53
Q

BMD stuff…

A
  • Clinical present. almost identical onset @ 11 but inability to amb mean of 27yrs
  • Scoliosis, contracture, sk. deforms LESS SEVERE/LATER IN LIFE
  • Tx same
  • BMD live longer→ transition planning more important and consider vocation training needed*
54
Q

BMD primary mm’s effected

*same as DMD

A

same as DMD

*More proximal mm weakness

55
Q

Congenital Muscular Dystrophy

Defined:

A
  • Heterogenous group of mm disorders w/ onset in utero or during first year
56
Q

Congenital Muscular Dystrophy

A
  • Very wide range of presentation*** (KNOW THIS!!!) and progression
  • Reported forms:
    • CMD w/ CNS dis.
    • Merosin-deficit CMD
    • Integrin-deficient CMD
    • CMD w/ normal Merosin
57
Q

DMD only found in ______

A

MALES!!

58
Q

Fascioscapulohumeral MD

Defined:

A
  • Very rare inherited disorder→ defect on chromosome 4q35
  • Males + Females equally effected
59
Q

Fascioscapulohumeral MD

Onset and clinical presentation:

A
  • Onset by age 2→ BUT
    • impairment or disability not present until later in first decade***
  • Weakness:
    • facial mm’s, shoulder girdle, upper arms
  • Contractures rare:
    • bc everyday use of UEs via ADLs prevents
  • Slow progression w/ pds of rapid decline that can span decades***
60
Q

Fascioscapulohumeral MD

Infancy/Preschool Age

A
  • *Mm weakness about the face and shoulder girdle only prominent feature
  • Sleeps w/ EO
  • No whistle, drink straw, bubbles
  • Impaired smile ability→ communication defs
  • Typ walk w/out delay BUT w/ lordosis and scap widely ABD’d and outwardly rotated== HALLMARK SIGNS***
61
Q

Typ walk w/out delay BUT w/ lordosis and scap widely ABD’d and outwardly rotated== HALLMARK SIGNS OF….

A

Fascioscapulohumeral MD @ infancy/preschool age

*break the words down and look @ description- MAKES SENSE!!!

62
Q

Fascioscapulohumeral MD

School-Age Period

A
  • Progressive weakness gen. t/o trunk, shoulder, pelvic girdle
  • IND walking lost end of first decade**
  • SEVERE scap winging
  • Dec resistive UE acts to prevent mm fatigue
  • KAFOs considered→ progress. prox LE weakness
  • Scooters/power chairs >>>> manual wc
63
Q

Primary MM’s effected Fascioscapulohumeral MD

A

Scapula

Triceps

64
Q

Congenital Myotonic MD

What is myotonia

A

Difficulty w/ relaxation after mm contraction

65
Q

MOST COMMON ADULT-ONSET MD

A

Congenital Myotonic MD

66
Q

Congenital Myotonic MD

Defined:

A
  • MOST COMMON ADULT-ONSET MD
  • Rare w/ severe clin. features
  • Children born to mothers w/ myotonic MD
    • chromosome 19 defect
  • Severe hypOtonia and weakness @ birth
    • → Infancy onset
67
Q

Congenital Myotonic MD

What is unique about this type of MD in terms of actually improving??

A

*If child survives early newborn stage, prognosis of steady IMPROVEMENT in motor function over first decade

***

68
Q

Congenital Myotonic MD

Clinical presentation

A
  • Facial mvmts limtd w/ occ. CN involve.
  • Resp impairments→ newborn period
  • Feeding impairs→ NG tube
  • Gen contractures in 50% @ birth
    • ROM, casting, taping, night splints
  • Progressive improvement
  • Most dev. ability to ambulate but diffuse weakness may return later in life

If child survives early newborn stage, prognosis of steady improvement in motor function over first decade****

69
Q

Primary mm’s effected Congenital Myotonic MD

A

see pics

NOTE: diaphragm

70
Q

Emery-Dreifuss MD

similar to DMD how?

A

PRO defect

71
Q

Emery-Dreifuss MD

Clinical features

*vary widely

A
  • Contractures→ Post neck, elbow, ankle
  • Weakness→ mm’s of humerous, those innervated by peroneals
  • presents late childhood→teenager
  • Cardiac→ anomalies/arrhythmias
    • halter mon, pacemakers
72
Q

Emery-Dreifuss MD

PT:

A

contracture mgmt and strengthening

73
Q

Emery-Dreifuss primary mm’s effected think….

A

Ant Tib weakness====== Footdrop ****

plus the rest

74
Q

Limb-Girdle MD

A
  • X-linked recessive
  • Weakness/mm wasting→ shoulder and pelvic girdles FIRST
  • SLOW progression
  • assoc’d w/ cardiac probs later
75
Q

Limb-Girdle primary mm’s effected

remember shoulder and pelvic girdles FIRST***

A

see pics

76
Q

MM Weakness MD Chart

A

Duchenne/Becker vs Emery-Dreifuss vs Limb-Girdle vs Fascioscapulohumeral

77
Q

MD Summary

A
  • MDs are an expansive group of typ. progressive disorders predominantly effecting voluntary mm’s
  • PTs play a major role in care and mgmt of this pop of pts from infancy→ adulthood
78
Q

Name that MD Type

A

Duchenne and Becker MD

79
Q

Name that MD TYPE

A

Emery-Dreifuss MD

80
Q

Name that MD TYPE

A

Limb-Girdle MD

81
Q

Name that MD TYPE

A

Fascioscapulohumeral MD

Pediatrics (27 decks)

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