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Peds > Muscular Dystrophy > Flashcards

Muscular Dystrophy Flashcards

1
Q

Muscular dystrophy

A

Genetic

Progressive loss of muscle contractility secondary to myofibril destruction - rate varies based on type

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2
Q

Muscular dystrophy criteria for classification

A 
Mode of inheritance
Age of onset
Progression rate
Muscle morphological changes
Presence of genetic markers
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3
Q

How many primary classifications of MD?

A

9

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4
Q

Duchenne’s MD

A

Most common x-linked

Variable life span - late teens/early 20s up to end of 3rd decade

Ab/missing dystrophin - acts as anchor in intracellular lattice to enhance tensile strength

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5
Q

DMD Tx research - Myoblast transfer therapy

A

Infection of skeletal muscle precursor from donor into muscle of individual with MD - stem cell will grow and mutate w/ surrounding cells

Low efficacy

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6
Q

DMD Tx research - gene replacement

A

Introduction of dystrophin gene placed in vector

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7
Q

DMD long term corticosteroid use

A

Improve outcome - prolonged ind. and assisted walking by up to 3y
Improved pulm function

Side effect: weight gain, growth suppression, osteoporosis

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8
Q

DMD classical clinical manifestion onset at ____

A

4-5 yrs

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9
Q

DMD muscle weakness

A

Initially in neck flexor, ab, interscap and hip ext musculature
More generalized progression

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10
Q

DMD impairments

A 
Post calf enlargement
ROM WNL prior to age 5 (gast/sol and TFL tightness first)
Lordotic standing posture increased
Scap wing
Scoliosis
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11
Q

DMD infant to pre school

A

S/s no evident this young

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12
Q

DMD mean dx age

A

5 urs

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13
Q

DMD initial disability occurs by age 5

A

Clumsiness, falling, inability to keep up w/ peers
Gait mildly atypical
Unable to run or jump
Growers sign

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14
Q

DMD age 6-8

A

Stair negotiation and standing from floor more difficult
Gait - inc BOS, trendelenburg, lateral sway, shoulder retraction, reduced arm swing
Toe walking - initial comp for weak ab and hip ext —> lordosis and forward shift of COM

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15
Q

DMD 8-10

A 
Toe walk (post calf contract)
In toe w/ TFL (weak iliopsoas)
Falls
Fatigue during amb
Progressive decline in pulm, MVC
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16
Q

DMD adolescence

A

Walking lost for most mobility (age 10-12)
Transfers increasingly difficult
W/C
Difficult ADLS
Contractures should be maintained through position and activites, man stretching discont.

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17
Q

DMD and exercise

A

Overexertion and immobilization detrimental
Submax ther ex beneficial -only for motivated families
Cycling and swimming
Standing and walking min 2-3hrs/day

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18
Q

Key muscles for DMD if ther ex early

A

Abs
Hip ext
Hip ab
Knee ext

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19
Q

DMD and breathing exercise

A

Short to slow loss of VC and FEFR

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20
Q

DMD EStim

A

Slow progression of weakness

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21
Q

DMD home exercise

A

ROM - hold 30-60 sec
Prone to sleep to slow flex contracture (splinting)
Modify/exclude physical fitness test that includes push up, sit up, timed running
Scoliosis check

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22
Q

DMD addressing falls and fatigue in 8-10 age range

A

Guard on stairs and amb
Man W/c while child can propel
Motorized scooter should be considered to increase ind.

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23
Q

DMD cont of walking

A

Personal decision by child/family
Standing slows progression of contracture - KAFO
Stand pivot transfer regresses to 1-2 man lift. (Tub lift and bath chair required)

24
Q

Add vignos scale

A

L

25
Q

DMD mobility/spinal alignment

A

Power scooter for transition to power chair
Manual chair possible
Fit! Sold back, lateral trunk and lumbar support, add pads seat belt, chest strap, foot rest to support neutral ankle, midline joystick
Neutral or slight ext of spine to slow scoliosis

26
Q

DMD exercise

A

Shift emphasis from LE to UE, bilateral and encourage them assist w/ AD

Rom include stretch of shoulder and elbow

27
Q

DMD home medications

A

Wheeled commode, bath chair, hand held shower, urinal
Airflow mattress, egg crate cushion or hospital bed
Position program throughout night to prevent skin breakdown

28
Q

DMD transition to adulthood

A

Greater reliance on AT for enviro access and ADL
Social considerations
Environmental control until on power chair to access other technology
Breathing exercise
Postural drainage
Intermittent pressure breathing tx

29
Q

DMD - vent

A
  • CPAP when FVC <30% of age adjusted norm
  • Assisted vent w/ trach when resp insufficiency is present with ab blood gas levels during day or night
  • preterminal stage
30
Q

75% of children w/ DMD pass away from ______

A

Respiratory infections

31
Q

Becker muscular dystrophy

A

More slowly progressive variant of DMD
Dystrophin present in reduced amounts/abnormal size
Initial s/s not I before late child/early adolescence
Frequently report muscle cramping

32
Q

Mean onset for BMD

A

11
Inability to walk at 27
Death 42 years

33
Q

BMD impairments

A

Same as DMD, less severe
Higher cardiac involvement than DMD
Contracture may be present when walking no longer possible

34
Q

Initial clinical signs of BMD

A

Frequent falls and clumsiness in mid to late teens

35
Q

BMD sig diability develops in

A

Mid twenties for most

36
Q

Limiting factor for longevity in BMD

A

Complications for dilated cardiac myophathy

37
Q

Congenital muscular dystrophy

A

Group of muscle disorders w/ onset in utero/during 1st year

Characterized by onset of congenital hypotonia, delayed motor development, early onset of progressive weakness

38
Q

Reported forms of congenital muscular dystrophy

A

Congenital MD w/ CNS (fukuyama syndrome, walker Warburg disease, muscle eye brain disease)
Meiosis diffident congenital MD
Inter grin deficient congenital MD
Congenital MD w/ normal merosin

39
Q

Spinal muscular atrophy - childhood onset type 1

A

Werdnig haoffman (acute)
0-3 mo onset
Recessive inheritance
Rapid progression, severe hypotonia, death w/in. First year

40
Q

Spinal muscular atrophy childhood onset type 2

A 
Werdnig- Hoffman (chronic)
3m-4y onset
Recessive inheritance
Rapid progressive that stabilizes
Moderate/severe hypotonia
Shortened life span
41
Q

Juvenile- onset type 3 spinal muscular atrophy

A 
Kugelber-welander
5-10 yr onset
Recessive
Show progressive
Mild impairment
42
Q

SMA dx

A

Autosomal recessive w/ genetic defect on chromosome 5
Survival motor neuron - (ant horn cells, w/out = apoptosis)
Abnormal ant horn cells

43
Q

Werdnig Hoffman SMA incidence

A

Type 1 and 2 account for 47% of SMA

44
Q

SMA objective

A 
Goni, myometry, mmt, pulm function
6 min walk
North Star amb assessment
Revised Upper limb module for SMA
Motor function measure
PEDI
PEDS QL
Egen klassifikation scale
45
Q

Acute childhood SMA type 1 impairments

A

Primary: muscle weakness secondary to loss of ant horn
Contractures w/ acute onset
Inconsistent CN involvement
Secondary imp: contractures, scoliosis

46
Q

Acute childhood SMA type 1 tx

A

feeding, ROM, positioning, respiratory care

47
Q

SMA type 1 infancy

A

Weak/absent fetal movement during last months preg.
Sig weakness at birth (antigravity w/ pelvic or shoulder)
Resp. Care is central focus
POE not attained
Supported sitting for only short periods. Avoid fatigue

48
Q

Mean age of death for SMA type 1

A

6 mo

1-21 months is typical range

49
Q

Chronic childhood SMA type 2

A

Sig weakness in first year of life

Proximal muscle weakness

50
Q

Chronic childhood SMA type 2 subgroups

A

Most severely involved - never develop ability to sit alone and resp capacity severely reduced

Intermediate - sits alone but never able to walk. FVC regress to 45% by age 10

Least sever - (I) walking attained, 50% then lose by end of first decade

51
Q

SMA type 2 infancy

A

15% show impairments w/in first 3 mo
Sitting posture primary concern
Avoid fatigue
If child not standing by 16-18 mo, adaptive equipment should be considered

52
Q

SMA type 2 preschool/school age

A

Toddler may require KAFO standing - walking may be unrealistic goal
Invitation walking program in II bars followed by walker
Power mobility for those not (I) - change side of joystick every 6 mo

53
Q

SMA type 2 hip dislocation and contracture occur less often when ____

A

Supported wlaking program is utilized

54
Q

SMA type II progress to adulthood

A

Survival into adulthood extremely variable
Intelligence is rarely affected
Aggressive pulm care required
ROM continuation, control contractures

55
Q

Juvenile onset SMA (3)

A

Onset later in 1st debate - may have weakness in first year in proximal hip and shoulder girdle

56
Q

Juvenile onset SMA impairments

A

Proximal LE weakness MC
Secondary: post compensations due to muscle weak, contracture, scoliosis
Increased lordosis, trandelenburg
PF contracture frequent
Incidence of scoliosis and severity related to degree of weakness and functional status.

57
Q

SMA

A

Second most common group of fatal recessive disease

Peds (18 decks)

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