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MRCP Genetics > Myotonic dystrophy > Flashcards

Myotonic dystrophy Flashcards

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Biology 101 flashcards
1
Q

inheritance of myotonic dystrophy ?

A

autosomal dominant

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2
Q

what are the different types of myotonic dystrophy ?

A

trinucleotide repeat disorder

DM1 gene on chromosome 19

DM2 on chromosome 3

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3
Q

what are the clinical features of DM1 (myotonic dystrophy )

A

Distal weakness more prominent

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4
Q

what are the clinical features of D2 (myotonic dystrophy )

A

proximal weakness more PROMINENT

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5
Q

GENERAL CLINICAL FEATURS OD myotonic dystrophy ?

A

myotonic facies (long, ‘haggard’ appearance)
frontal balding
bilateral ptosis
cataracts
dysarthria
weakness of arms and legs

DM

cardiac involvement: heart block, cardiomyopathy

testicular atrophy

dysphagia

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MRCP Genetics (11 decks)

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