duchenne muscular dystrophy

Question 1

what is duchenne muscular dystrophy

Answer 1

x-linked recessive inherited disorder in the dystrophin genes

Question 2

features of duchennes

Answer 2

progressive proximal muscle weakness from 5 years
calf pseudohypertrophy
gower’s sign: child uses arms to stand up
intellectual impairment

Question 3

investigations for duchenne

Answer 3

raised CK
genetic testing for definitive diagnosis

Question 4

management of duchenne

Answer 4

supportive
most children cannot walk by the age of 12
associated with dilated cardiomyopathy