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