Duchenne muscular dystrophy Flashcards
what is it
affects gene Xp21 (largest gene)
- absence of dystrophin
- muscles leaky=muscle wasting
who more commonly has it
M>F
F are carriers
50% chance of presentation in males
which muscles does it typically affect
shoulder girdle calf muscles abds glutes HS
when are people diagnosed
apparent between 2-4 years of age
-idenfitied with onset of weakness and decline in motor function
what does prednisone and deflazacort do
delay cessation of ambulation for 2-5 years
-treatment mostly directly towards maintaining function in unaffected muscle groups for as long as possible
what is the prognosis
- rapidly progressive
- loss of walking by 9-12 years
- pulm and cardiac function after becoming WC bound
- death 30-40 years old
which MD are X linked
buchenne
becker
which MD are autosomal recessive or dominant
facloscapulohumeral
limb girdle
myotonic
congenital
what are some signs of MD
- gowers sign
- frequent falls
- difficulty with stairs
- waddling gait
- increased lumbar lordosis
- toe walking
- scap winigngin
- low IQ
- GI issues
during stage 1, what are some PT interventions
- daily stretching for heel cords and hamstrings
- low intensity exercise
- avoid eccentrics
- self paced endurance exercise
during stage 2, what are some additional PT interventions
2-3 hours daily of standing or walking
-consider night ankle splints
what is guillian barre syndrome
can be caused by a bacterial infection
what is SMA
- decreased survival motor protein
- results in degeneration of anterior horn cells and muscle weakness
- autosomal recessive
Type 1: infancy
Type 2: after onset of sitting
Type 3: after onset of walking
what is charcot-marie-tooth
AKA hereditary motor and sensory neuropathy
- most commmon in herited disorder affecting motor and sensory nerves
- distal limb muscle wasting and weakness
- LE progressing to UE
describe duchennes
- NO dystrophin
- nonsense mutation
- frameshift mutation
- more severe
