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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

25
DMD mobility/spinal alignment
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
DMD exercise
Shift emphasis from LE to UE, bilateral and encourage them assist w/ AD Rom include stretch of shoulder and elbow
27
DMD home medications
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
DMD transition to adulthood
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
DMD - vent
- 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
75% of children w/ DMD pass away from ______
Respiratory infections
31
Becker muscular dystrophy
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
Mean onset for BMD
11 Inability to walk at 27 Death 42 years
33
BMD impairments
Same as DMD, less severe Higher cardiac involvement than DMD Contracture may be present when walking no longer possible
34
Initial clinical signs of BMD
Frequent falls and clumsiness in mid to late teens
35
BMD sig diability develops in
Mid twenties for most
36
Limiting factor for longevity in BMD
Complications for dilated cardiac myophathy
37
Congenital muscular dystrophy
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
Reported forms of congenital muscular dystrophy
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
Spinal muscular atrophy - childhood onset type 1
Werdnig haoffman (acute) 0-3 mo onset Recessive inheritance Rapid progression, severe hypotonia, death w/in. First year
40
Spinal muscular atrophy childhood onset type 2
``` Werdnig- Hoffman (chronic) 3m-4y onset Recessive inheritance Rapid progressive that stabilizes Moderate/severe hypotonia Shortened life span ```
41
Juvenile- onset type 3 spinal muscular atrophy
``` Kugelber-welander 5-10 yr onset Recessive Show progressive Mild impairment ```
42
SMA dx
Autosomal recessive w/ genetic defect on chromosome 5 Survival motor neuron - (ant horn cells, w/out = apoptosis) Abnormal ant horn cells
43
Werdnig Hoffman SMA incidence
Type 1 and 2 account for 47% of SMA
44
SMA objective
``` 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
Acute childhood SMA type 1 impairments
Primary: muscle weakness secondary to loss of ant horn Contractures w/ acute onset Inconsistent CN involvement Secondary imp: contractures, scoliosis
46
Acute childhood SMA type 1 tx
feeding, ROM, positioning, respiratory care
47
SMA type 1 infancy
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
Mean age of death for SMA type 1
6 mo | 1-21 months is typical range
49
Chronic childhood SMA type 2
Sig weakness in first year of life | Proximal muscle weakness
50
Chronic childhood SMA type 2 subgroups
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
SMA type 2 infancy
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
SMA type 2 preschool/school age
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
SMA type 2 hip dislocation and contracture occur less often when ____
Supported wlaking program is utilized
54
SMA type II progress to adulthood
Survival into adulthood extremely variable Intelligence is rarely affected Aggressive pulm care required ROM continuation, control contractures
55
Juvenile onset SMA (3)
Onset later in 1st debate - may have weakness in first year in proximal hip and shoulder girdle
56
Juvenile onset SMA impairments
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
SMA
Second most common group of fatal recessive disease

Peds (18 decks)

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