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30 Cards in this Set

  • Front
  • Back
What is MD?
Group of myopathies that is genetically determined
Steady progressive degenerative course
Etiology of MD
Progressive loss of mm contractility caused by destructin of myofibrils
Rate of destructio variable among forms of MD
What is DNE MD?
Duchenne MD
Most common myopathy
AKA pseduohypertrophic MD or progressive MD
When do kids with DNE MD die?
early to late 20s due to resp infection or cadioresp insufficiency
How is DNE MD inheritied?
When are s/s showing up?
X-linked inheritance pattern
Males inherit from asymptomaticmothers
Gene mutation at XP21 in gene cod for dystrophin
Insidious onset, before 3yo
Early symptoms of MD?
Reluctance to walk/run at appropriate ages
Falling, difficulty getting up from floor, toe walking, clumsiness
Why inc in mm size with MD?
Pseudohypertophic = CT and scar tissue hypertrophy
Gastroc, infraspinatus, delt most common
Gour symptom
Kids have difficulty getting up from floor.. so they walk hands up legs
Underlying pathology of MD?
Changes in nervous system?
m exam shows degeneration fibers with inc'd CT and adipose cells
Mo/sensory undamaged
No sig change in CNS or vascular system
How is a diagnosis of MD made?
Lab resuls
Abnormally high CrKinase
Myopathic EMG
Abnormal mm biopsy
Genetic analysis - characteristic deletion
How does child with MD present in PT?
Early weakness hip/knee EXT results in inc'd lumbar lordosis
COG posterior to hip (don't change this)
Child broadens BOS while walking
Gower's sign when getting up off floor
Contractures common with progression
How do MD kids perform functional activities?
Slowly, but most can walk, climb, and stand up from floor without too much difficulty til 6 or 7 yo
When do kids start having trouble with functional activity
6 or 7 things get touch
10 yo: lost unassisted AMB
Becker MD
Mildest form of X-linked dystrophy
Slower progression but similar to duchenne
Maintain ind. AMB til age 15
Other misc. systems affected with DMD?
Scoliosis
Organ involvement (resp mm atrophy, dystrophic cardiomyopathy)
Intellect slightly reduced, not progressive or related to severity
Seldom lose B/B
Medical mngt of DMD
No pharmaological tx or cure
Prednisone inc's strength, with all side affects, still keeps kid stronger for longer
Proposed medical management for DMD
Myoblast transplant
Various other strategies to replace defective gene and missing protein
Benefit of PT for DMD?
Some compensations that magnify functional disability are preventable/predictable
Active PT/timely application braces can prolong AMB - more normal childhood
Specific tx per child
What is a big thing with ongoing evaluation of DMD?
Being able to predict next major need and planning ahead
4 major goals of PT mgmt
1. Facilitate, devlop, assist family support
2. Prevent deformity
3. Prolong funtional capacity
4. Control pain, if necessary
Examples of PT interventions - always address specific needs
ROM and positioning
Splinting/prevent deformity
Function with safety
home program/family support
activity level
Submax ex and DMD?
Limite value, some show inc'd metabolic stress
Evidence for prolonged gait?
Stretching, surgeries, w/c (?)
Chonic low freq estim (?)
Other considerations in DMD mngt?
Guard against obesity
Minimize spinal deformity
Sleep faciliation
Respiration
What is Myotonic Dystrophy?
Autosomal dominant disorder on chromosome 19
Commonly noticed in adolescence
Myotonia - delay in mm relaxation time
Present c/o weakness, stiffness, myotonia (distal first)
Severe form of myotonic dystrophy
Plagues wtih severe CI (?)
Delayed mo. milestones
distal weakness
Spinal deformity
What mm involved iwth myotonic dystrophy?
PT?
Skeletal and smooth
Reduce distal wasting, contorl spinal deformities
What is Facioscapulohumeral dystrophy?
Arise childhood to adult
Autosomal dominant on chromosome 4
face/shlder girdle initially involved
Proximal to distal progression
Normal life span, but pain common
3 categories of SMA in childhood
I: Werdnig-Hoffman (acute)
II: Werdnig-Hoffman (chronic)
III: Kugelberg-Welander (juvenile onset)
Pathology with SMA
Inheritied autosomal recessive, chromosome 5
Pathology of Ant Horn Cell