tasneembanu
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A mother reports her 1 yr old son is less active,there is progressive weakness,but his muscles appear larger than before,what is the diagnosis
1.central core disease
2.Duchenne's muscular dystrophy
3.limb girdle dystrophy
4.myutonic dystrophy
5.nemaline myopathy
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| mash
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duchenne ms dystrophy
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| tasneembanu
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do symptoms develop as early as 1 yr in Duchennes?
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| mani
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yes symptoms start in 1st yr of life, usually starting with prox muscle weakness
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| dariush
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how come they get larger and not atrophic ??
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| mash
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bcoz of replacement of ms by fibrofatty ts n dat is why it is ka pseudohypertrophy..
tasneem, as far as i remember, central core is non progressive
myotonic dystrophy is trinucleotide repeat so, can present at 1 yr but then family Hx shud be there...hypertrophy occurs in MD II
duchennes usu presents<5yrs of age and is noticed when child starts standing/walking
nemaline--"floppy infants" . Clinical findings include hypotonia, muscle weakness, joint contractures (arthrogryposis), and a non-progressive to slowly progressive course.
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| tasneembanu
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thanks mash and everyone.
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| dariush
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thanx mash.
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| mani
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also, the nemalin wont show pseudohypertrophy i think
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