Flashcards in Disorders of muscle Deck (12):
connects actin to sarcolemma
Name 3 inflammatory myopathies. Tx? Which involves skin?
dermatomyosits (skin), polymyositis, inclusion body myositis. DM and PM get steroid tx. IBM doesnt respond.
PM vs Dm: cells involved? Atrophy? Patterns?
T cells vs B cells. Endomysial vs perimysial (with perifascicular atrophy). Both patterns are proximal and symmetric
wrist flexors and knee extensors
Duchenne muscular dystrophy: genetics, progression, lab findings, tx
dystrophin gene, X-linked recessive. Normal at birth, wheelchair by 12, dead in 20's. Elevated CK. Prednison
milder than DMD. Dystrophin is semifunctional.
mechanism of atrophy in DMD and BMD
lack of quality dystrophin. Membrane tears on contraction. necrosis. replaced with CT and fat
Myotonic dystrophy: what is it? genetics? defect? pattern?
delated relaxation of SKM following contraction. CTG expansion. Cl channel abnormalities resulting in sarcolemmal excitability changes. Distal mm first. Weak facial mm.
Pomp Disease: deficiency, result, tx
acid alpha-glucosidase deficiency. glycogen accumulation in lysosomes. tissue distruction. enzyme replacement
McArdle Dz: deficiency? labs? related phenomena
myophosphorylase deficiency. Impaired glycolysis. myoglobinuria. second wind phenomenon due to glucose mobilization
impaired transport of FAs into mitochondria therefore no lipid metabolism.