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Neuro > myotonic dystrophy > Flashcards

myotonic dystrophy Flashcards

1
Q

what

A

inherited myopathy
features developing 20-30yo

affects skeletal, cardiac + smooth muscle

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2
Q

genetics

A

autosomal dominant

trinucleotide repeat disorder

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3
Q

DM1

A

DMPK gene chr 19

distal weakness more prominent

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4
Q

Dm2

A

repeat expansion ZNF9 gene chr 3

proximal weakness more prominant

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5
Q

features

A 
myotonic facies - long thin face
frontal balding 
bilateral ptosis
dysarthria 
slow relapsing grip
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