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5 Cards in this Set

  • Front
  • Back
Myotonic Dystrophy
*Common
*AD inheritance
*Mutation leads to CTG repeats in protein kinase
*Wasted extremities, frontal alopecia
*Myotonia-sustained m. contraction
*Histological triad: selective T1 atrophy; internal nuclei; ring fibers
Polymyositis
*Peak onset in 35-40 yo
*Rapid onset
*Generalized muscle weakness;fever, malaise, fatigue
*^ESR, ^CK
*T-cell mediated
*Histology: lymphocytic invasion, MHC-1 abnormally expressed in m.
Inclusion Body Myositis
*Peak onset in 50-70 yo
*Slowly progressive
*Asymmetric weakness
*Steroid resistant
*Histology: nuclear inclusions, fiber necrosis/regeneration, rimmed vacuole
McArdle's Disease
*AR inheritance
*Glycogen storage disease
*Myophosphorylase deficiency
*Histology: crescent blebs where glycogen deposited
*Unable to form lactate
CPT Deficiency
*AR inheritance
*Lipid storage disease
*CPT II deficiency
*M>F
*Episodic, attacks follow exercise
*Myalgia, myoglobinuria