Pathology Flashcards
colour of type 1 skeletal muscle fibres
red
colour of type 2 skeletal muscle fibres
white
features of type 1 skeletal muscle fibres
large mitochondria and high myoglobin
resistant to fatigue due to ability to regenerate ATP
features of type 2 skeletal muscle fibres
small mitochondria and large motor end plates
fatigue rapidly, good for short bursts of energy
CK levels in dystrophies
high
200-300x normal
CK levels in inflammatory myopathies
intermediate 20-30x normal
CK levels in neurogenic disorders
low 2-5x normal
features of DMD
proximal weakness
pseudoypertrophy of the calves
Mutation in DMD
dystrophin gene on long arm X chromosome
Effect of mutation in DMD
alterations in anchorage of actin cytoskeleton to basement membrane
uncontrolled calcium entry into cells
Histology in DMD
muscle fibre necrosis and phagocytosis
chronic inflammation and fibrosis
Which is worse - DMD or Becker MD?
DMD
Where is the mutation in BMD
dystrophin gene
Most common type of muscular dystrophy
myotonic dystrophy
Inheritance of myotonic dystrophy
autosomal dominant
Ch19/Ch3