Myotonic dystrophy Flashcards
1
Q
inheritance of myotonic dystrophy ?
A
autosomal dominant
2
Q
what are the different types of myotonic dystrophy ?
A
trinucleotide repeat disorder
DM1 gene on chromosome 19
DM2 on chromosome 3
3
Q
what are the clinical features of DM1 (myotonic dystrophy )
A
Distal weakness more prominent
4
Q
what are the clinical features of D2 (myotonic dystrophy )
A
proximal weakness more PROMINENT
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
