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Flashcards in Disorders of muscle Deck (12):
1

dystrophin

connects actin to sarcolemma

2

Name 3 inflammatory myopathies. Tx? Which involves skin?

dermatomyosits (skin), polymyositis, inclusion body myositis. DM and PM get steroid tx. IBM doesnt respond.

3

PM vs Dm: cells involved? Atrophy? Patterns?

T cells vs B cells. Endomysial vs perimysial (with perifascicular atrophy). Both patterns are proximal and symmetric

4

IBM: pattern

wrist flexors and knee extensors

5

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

6

Becker MD:

milder than DMD. Dystrophin is semifunctional.

7

mechanism of atrophy in DMD and BMD

lack of quality dystrophin. Membrane tears on contraction. necrosis. replaced with CT and fat

8

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.

9

Pomp Disease: deficiency, result, tx

acid alpha-glucosidase deficiency. glycogen accumulation in lysosomes. tissue distruction. enzyme replacement

10

McArdle Dz: deficiency? labs? related phenomena

myophosphorylase deficiency. Impaired glycolysis. myoglobinuria. second wind phenomenon due to glucose mobilization

11

carnitine deficiency

impaired transport of FAs into mitochondria therefore no lipid metabolism.

12

Statin myopathy: signs and labs. Mechansim

CK elevation, myalgia, weakness, myoglobinuria. Stains inhibit HMG-CoA reductase and geranylgeraniol which is necessary for coQ10 which is necessary for ATP production. Also decreased cholesterol in mm membranes.