Muscular Dystrophy Flashcards
how does muscular dystrophy occur?
inherited (x-linked recessive) gene
how is muscular dystrophy characterized?
progressive
what is the pathogenesis of muscular dystrophy?
absent dystrophin cannot protect complex
loss of complex = degrades muscle fibers
which muscular dystrophy subtype is associated with the most severe clinical symptoms?
duchenne muscular dystrophy (DMD)
which muscular dystrophy subtype is associated with a later onset and a milder clinical course?
becker muscular dystrophy (BMD)
which muscular dystrophy subtype is associated damage to the heart and skeletal muscle is spared?
DMD-associated dilated cardiomyopathy
what occurs to dystrophin in Duchenne muscular dystrophy (DMD)?
dystrophin levels are reduced or absent
what occurs to dystrophin in Becker muscular dystrophy (BMD)?
dystrophin protein is altered
what is the primary symptom in muscular dystrophy?
weakness
which is affected first: proximal or distal limb muscles? upper or lower extremities?
proximal
lower
using hands to push into an upright position when getting up from the floor
gower’s sign
what presents in patients with Duchenne muscular dystrophy associated with dilated cardiomyopathy? (2)
conduction abnormalities
arrhythmias
what 2 fracture locations are common?
arm and leg fractures
what develops in nearly all patients with DMD? what can it lead to?
progressive scoliosis + weakness
acute respiratory failure
what may be diminished or gone in DMD?
reflexes