Duchenne muscular dystrophy

Question 1

Duchenne muscular dystrophy cause?

what gene is affected

Answer 1

mutations in the dystrophin gene

Question 2

dystrophin gene located where?

Answer 2

chromosome Xq28

Question 3

dystrophin protein normal function?

Answer 3

dystrophin helps makes muscle protein

Question 4

Duchenne muscular dystrophy surgical sieve it?

Answer 4

inherited

Question 5

mode of inheritance in Duchenne muscular dystrophy?

Answer 5

X-inked recessive

Question 6

what is the most common and severe form of muscular dystrophy?

Answer 6

Duchenne muscular dystrophy

Question 7

Classic presentation for Duchenne muscular dystrophy?

Answer 7

young toddler struggles to walk > this only gets worse

Question 8

disease course of Duchenne muscular dystrophy?

Answer 8

age 4 muscles feel weak > age 9 can not walk (non-ambulant) > struggle to breathe (need ventilation);

Question 9

Prognosis for Duchenne muscular dystrophy?
(i.e. age of death)

what is the cause of death?

Answer 9

die at age 20

die from resp failure or infection

Question 10

Duchenne muscular dystrophy associated with what disease most commonly?

% wise how many DMD pts have it?

Answer 10

dilated cardiomyopathy

50%

Question 11

Duchenne muscular dystrophy associated with what other diseases/conditions?
-2

Answer 11

scoliosis

intellectual impairment

Question 12

define DMD?

Answer 12

progressive proximal muscle weakness from 5 years due to dystrophin gene mutation.

Question 13

symptoms of DMD toddler complains of?

-2

Answer 13

Can not walk

Feel weak

Question 14

what developmental domain is delayed?

Answer 14

motor delays

Question 15

DMD signs seen on examiantion?

Answer 15

Gower’s sign
Calf pseudohypertrophy
Scoliosis
Fat grows in muscle

Question 16

what is Gower’s sign?

Answer 16

child uses arms to stand up from a squatted position

Question 17

if fat grows in muscle how will this make muscle look?

Answer 17

bigger

Question 18

why does

Calf pseudohypertrophy happen?

Answer 18

fat deposits inc calf

Question 19

in DMD blood, which enzyme will be high (associated with muscles)?

Answer 19

creatinine kinase

Question 20

Ix to diagnose DMD?

Answer 20

gene testing

Question 21

Mx for DMD depends on what?

Answer 21

on what stage of the disease they are at

Question 22

DMD pt has ambulation.

Mx? - 2

• 1 is drug
• other is someone you refer to

Answer 22

prednisolone

physiotherapy

Question 23

DMD pt does not have ambulation.

mainstay Mx?
-1

Answer 23

physiotherapy only

Question 24

DMD pt struggles to breathe.

mainstay Mx?
-1

Answer 24

intermittent positive pressure ventilation

Question 25

DMD pt has LV ejection frac below 50% (i.e. HF).

Mx?
-2 drug names

groups of these 2 drugs?

Answer 25

carvedilol + perindopril or lisinopril

beta blocker and ACE-I

Question 26

how does ACE-I help in heart failure?

-3 ways

Answer 26

stops the overloaded RAAS compensation, treats HTN, treats oedema?