group of inherited disorders characterized by degeneration of skeletal muscle
Muscular Dystrophy
MD is the result of a metoblic deficit of _______ resulting in cell degeneration and necrosis.
dystrophin
true or false: few muscular dystrophies are inherited and involve a mutation in genes
false: all involve inheritance and gene mutation
Can MD be caused by spontaneous mutations?
yes
MD is more common for _____, primarily of the Duchenne or Becker variety
males
3 routes of MD inheritance
Autosomal dominant
Autosomal recessive
X linked recessive
For MD, muscle fibers are replaced with____ & ______ ______ tissue, leading to hypertrophic appearance of muscle
fat & fibrous connective tissue
this holds the cytoskeleton to the extracellular matrix
dystrophin
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
Fascioscapula humeral MD has _____ inheritance, age of onset before _____, affects _______, ______, & _______ with ______ to _________ progression
autosomal dominant
before 20
shoulder neck and face
slow to moderate
Myotonic MD has ______ inheritance and can occur from _____ to _______. It affects the ______ & ______ and progresses ______.
autosomal dominant
birth to 50 years
face & hands
slow
Limb girdle MD has ______ inheritance and can affect _____ ages. It affects the _____ & _______ with _______ progression