Muscular dystrophy

Question 1

Two types of muscular dystrophy

Answer 1

Duchennes MD

Becker MD

Question 2

Duchennes

Answer 2

1/3000 boys
onset 3 years
wheelchair 12 years
presentation - clumsy walking
Genetics - duchenne gene short arm of x (Cp665) “out of frame”
deletion - 65% (failure to form functional dystrophin (link) between F-actin and dystroglycan complex

Question 3

Beckers MD

Answer 3

1, 18,00
onset - 11 years
wheelchair - 11 years
wheelchair much later/ if at all

Genetics
85% in frame deletion

Forms partially function dystrophin