MD/SMA

  1. group of inherited disorders characterized by degeneration of skeletal muscle
    Muscular Dystrophy
  2. MD is the result of a metoblic deficit of _______ resulting in cell degeneration and necrosis.
    dystrophin
  3. true or false: few muscular dystrophies are inherited and involve a mutation in genes
    false: all involve inheritance and gene mutation
  4. Can MD be caused by spontaneous mutations?
    yes
  5. MD is more common for _____, primarily of the Duchenne or Becker variety
    males
  6. 3 routes of MD inheritance
    • Autosomal dominant
    • Autosomal recessive
    • X linked recessive
  7. For MD, muscle fibers are replaced with____ & ______ ______ tissue, leading to hypertrophic appearance of muscle
    fat & fibrous connective tissue
  8. this holds the cytoskeleton to the extracellular matrix
    dystrophin
  9. Duchenne's MD inheritance is _______ with age of onset at __ to __ years. Parts of the body affected are ___, _____, & _______ with ______ progression.
    • X-linked recessive
    • 2-3 years
    • hips, legs & shoulder girdle
    • rapid
  10. Fascioscapula humeral MD has _____ inheritance, age of onset before _____, affects _______, ______, & _______ with ______ to _________ progression
    • autosomal dominant
    • before 20
    • shoulder neck and face
    • slow to moderate
  11. Myotonic MD has ______ inheritance and can occur from _____ to _______. It affects the ______ & ______ and progresses ______.
    • autosomal dominant
    • birth to 50 years
    • face & hands
    • slow
  12. Limb girdle MD has ______ inheritance and can affect _____ ages. It affects the _____ & _______ with _______ progression
    • autosomal recessive
    • all ages
    • shoulder & pelvis
    • varied
Author
Anonymous
ID
71176
Card Set
MD/SMA
Description
Pathophys Test 2
Updated