Question

1) Explain why immunohistochemical staining for dystrophin protein is patchy in a female carrier?

2)Develop a flowchart for diagnosis of muscular dystrophy (including distinction between the two major types – 2 pts)

3) What is the standard of care for patients with Duchenne muscular dystrophy?

Answer 1

a> In DMD (Bucherpe muscular dystrophy ) disease there is abnormal or No formation of duchene protein (Dystrophin) in muscle fibres. This is most commonly a x-linked recessive disease thue affeting males completely while. females are carriers with gene and having (Dystro- phin) duchene protein in many (most) of their muscles. fibres affecting very few fibres. So in immunohistochemical stain in female carriers Shows pathy (mosaic) pattern since most are having duchene protein but fews are not having it. b) low chart for diagnosis : History and Physical examination shows - features of DMD first Go for non-invasive test like creatinine-kinase (ck) from Blood sampler High ck level shouss there is muscular degeneration problem Confirm it by Genetic testing on Blood cell or Immunohistochemical stain of Biopsy tissue (Invasive but best test) Mutation in DMD gene confirms diagnosis c) There is no such standard care for DMD patients Mostly the care includes the prevention of sequelae of heart and lung disease along with physiotheraphy for ambulatory function and mainstay of treat- ment is steroids. & Eteplirsen is now approved.