L9 DMD and SMA Flashcards
1
Q
Duchenne Muscular Dystrophy
A
- most common form of MD, with 1 in every 3000-6000 births
- muscle composition abnormalities
- progressive degeneration of muscle fibers, variation in fiber size
- connective and adipose tissue deposits in muscle
- most live from 20-30 yo
2
Q
Etiology of DMD
A
- x-linked recessive trait
- affects males, females can be carriers and may EXHIBIT s/s
- defect in Xp21portion of X chromosome
- this defect encodes dystrophin protein, which is linked to muscle function
3
Q
Impairments and Activity limitations for DMD
A
- progressive muscle weakness, more in proximal
- contractures (usually hip flexion, IT band, pf)
- progressive scoliosis
- motor skill regression
- loss of ambulation
- loss of life in young adulthood
4
Q
Stages of DMD
A
- presymptomatic
- early ambulatory (childhood, very few s/s)
- late ambulatory (childhood)
- early non-ambulatory (adolescent)
- late non-ambulatory (adult)
5
Q
Signs of DMD
A
- delayed walking, beginning later than 18 mo
- decreased coordination
- toe walking
- motor regression
- pseudohypertophy of calf
6
Q
Pseudohypertrophy of calf
A
- enlargement without increased strength
- weakness pattern noted with proximal affected greater than distal
- accumulation of fat and connective tissue
7
Q
PT interventions for DMD
A
- needs help dependent on progression
- avoid aggressive strengthening, especially eccentric (causes cell death)
- stretching and ROM, helpful early
- standing programs
- orthotic management for contractures
- prevention of joint deformities
- gross motor activities
- equipment management
- HEP to stay active and playful
8
Q
Compensatory patterns in DMD
A
- develop to compensate for weakness
- can result in ROM limitations
- may interfere with ambulation
- AFOs are not typically used as they can prevent kids from using compensatory movements and add additional weight
9
Q
W/c and DMD
A
- use typically by age 12
- should shift PT intervention to equipment assistance, managing LE contractures
- standing program
- flexibility
- night splints
- prone lying
10
Q
Gower’s Sign
A
almost exclusively related to muscular dystrophy
11
Q
Surgery for DMD
A
- spine, ankle
- spine surgery is considered when there is 20-30° curve and less than 14 for scoliosis
- possible to develop further weakness and pneumonia from post surgery
- post operative care is imperative
- bracing could help postural control and breathing, won’t stop progression
- rigid bracing is avoided because it results in breakdown
12
Q
Respiratory function DMD
A
- is likely to regress, so nighttime ventilation will possibly be needed
- spirometry for maintaining function
- energy conservation education
13
Q
Spinal Muscular Atrophy
A
- anterior horn cell degeneration and flaccid paralysis
- autosomal recessive, mutation of SMN gene on 5th chromosome.
- for SMA type three, it is x-linked
14
Q
SMA Type 1
A
- seen at birth
- proximal, symmetrical weakness
- feeding and breathing problems
- severely limited motor development affecting all activities
- unable to sit without support
- power mobility helps in participation
- low life expectancy without medication of Nusinersen
15
Q
SMA Type 2
A
- muscular weakness similar pattern as type 1 but slower progression
- not as severe as type 1
- may learn to walk with assistance and perform ADLs
