muscle dystrophy

Question 1

give 3 types of muscle dystrophy

Answer 1

1. duchenne
2. becker
3. myotonic

Question 2

describe duchenne dystrophy

Answer 2

x linked recessive
XP21 frameshift deletion mutation in dystropian gene

Question 3

describe becker dystrophy

Answer 3

x linked recessive
xp21 missense mutation

Question 4

describe myotonic dystrophy

Answer 4

autosomal dominant
presents with b/l cataract and ptosis
test with handhsake –> px struggle to let go
CTG expansion on DMPK gene

Question 5

when do sx of duchenne dystrophy present

Answer 5

present earlier
more severe
usually at 5y
wheelchair by 15y

Question 6

when do sx of becker dystrophy present

Answer 6

present later
less severe
usually at 15-20y
wheelchair by 30y

Question 7

what are sx of duchenne and becker dystrophy

Answer 7

calf pseudohypertrophy
gower sign +ve
symmetrical proximal weakness
increase risk of dilated cardiomyopath

Question 8

dx of muscle dystrophy

Answer 8

bloods - increased ck
gold standard -muscle biopsy staiend for dystrophin

Question 9

tx of muscle dystrophy

Answer 9

MDT supporitve
regular ECHO scans
corticosteroid to reduce progression
ataluren gene therapy