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22 Cards in this Set
- Front
- Back
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the best way to dx muscle patholgoy is ___
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immunohistochemistry
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DMD presents at age ___
weakness is symmetric/asymmetric and is proximal/distal |
3--5
symmetric proximal |
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___ sign is classical for DMD, and denotes ___.
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Gowers'
using hands to push on knees to stand up |
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DMD is associated with
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cardiomyopathy
mental retardation night blindness |
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death in DMD is from ___ or ___ failure
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cardiac
respiratory |
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DMD is caused by mutation in ___ on chromosome ___
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dystrophin
X |
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retardation in DMD is due to ___
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dystrophin accumulation in brain
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normally, dystrophin does ___ (2)
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stabilizes sarcolemma during contraction
links ECM and cytoskeleton |
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3 serum markers for DMD
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very high CK
high ALT, AST |
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in DMD, CK is highest in ___th decade
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1st
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___ prolongs ability to walk in DMD
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CS
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mutations causing DMD are usually ___ mutations
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frameshift
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Becker dystrophy has ___ dystrophin, but not ___ as in DMD
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reduced
zero |
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mitochondrial diseases have ___ fibers
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ragged red
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T/F: mitochondrial disease can be caused by nuclear gene mutation
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true
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myotonia is ___
it is caused by deficient ___ in ___ |
delayed relaxation
ion channels sarcoplasmic reticulum |
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myotonic dystrophy is a ___ trait caused by a mutation on chromosome ___.
|
AD
19 |
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type 1 myotonic dystrophy presents between ages ___ and ___
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5
25 |
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congenital myotonic dystrophy presents with ___ but not ___
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hypotonia
myotonia |
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serum ___ may be normal or ___
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CK
high |
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damage in polymyositis is to ___ and is caused by ___
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muscle fibers
CD8 T cells |
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damage in dermatomyositis is to ___ and is caused by ___
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endomysial capillaries
complement |
