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40 Cards in this Set
- Front
- Back
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What gene is there a mutation in in DMD?
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Xp-21 (Same as Becker)
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What gene is there a mutation in in BMD?
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Xp-22 (Same as DMD)
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What level of Dystrophin is there in DMD?
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NONE
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What muscle disease displays Gowers sign?
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DMD
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What muscle diseases are characterized by internalization of nuclei?
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DMD, BMD and Myotonic Dystrophy
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A proliferation of what exists in DMD?
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Endomysial CT
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What is pseudohypertrophy and in what diseases would this be seen?
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Fat has replaced muscle in the calf; DMD, BMD
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What type of protein is Dystrophin?
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Cytoplasmic
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Where is dystrophin concentrated?
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Over the Z bands
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What is the function of dystrophin?
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Links Actin to the ECM
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Through what does dystrophin link actin to the ECM?
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Dystroglycan proteins and Laminin-2 (alpha)
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What specific abnormality of Xp21 is present in DMD?
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Deletion of dystrophin gene
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What usually happens to females that are carriers of DMD?
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Elevated CPK levels and are at risk for dilated cardiomyopathy
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What is the main difference between DMD and BMD?
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BMD has a later age of onset, is slower progressing, pts have nearly normal lifespan and SOME dystrophin is present, but size is altered
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What muscle disease would a pt exhibit "toe walking?"
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BMD
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What test would distinguish between BMD and DMD?
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Western Blot
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What is a sustained involuntary contraction of a group of muscles?
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Myotonic Dystrophy
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Where in the muscle would you find atrophy in Myotonic Dystrophy?
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Distal
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Is a Gowers sign present in Myotonic Dystrophy?
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May or May not be
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What disease would show a + thenar tap sign?
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Myotonic Dystrophy
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What disease would you see Christmas Tree Cataracts?
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Myotonic Dystrophy
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What muscle diseases would give a pt "Hatchet Face?"
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Myotonic Dystrophy and Myasthenia Gravis
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What disease would you see ring fibers and sarcoplasmic masses?
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Myotonic Dystrophy
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What is repeated in myotonic dystrophy?
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CTG on 19q
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What # of repeats would be abnormal in myotonic dystrophy?
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more than 30
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Many repeats of CTG on 19q in myotonic dystrophy would have an adverse affect on mRNA for what?
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DMPK
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What muscle disease is anticipation a concern?
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Myotonic Dystrophy
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Where would you find muscle weakness in dermatomyositis?
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Proximal
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What muscle disease may you find dysphagia and an erythematous rash?
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Dermatomyositis
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What muscle disease may you find heliotrope?
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Dermatomysoitis
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What disease may you find paronichyia?
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Dermatomysoitis
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What disease may you find Grotton lesions?
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Dermatomysoitis
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Dermatomyositis is hypoperfusion resulting from what?
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Endothelial injury
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What type of atrophy is dermatomyositis associated with?
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Perimysial atrophy/inflammation
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What type of weakness is Polymyositis associated with?
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Subacute or chronic Proximal
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What disease will have very elevated CPK?
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Polymyositis
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What muscle diseases are AI?
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Polymyositis and Myasthenia Gravis
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What disease is CD8 + with lymphocytes and macrophages?
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Polymyositis
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What disease is associated with hyperplasia of the thymus?
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Myasthenia Gravis
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What do you use as a Dx test in Myasthenia Gravis?
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Anitcholinesterase (Tensilon)
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