DMD

Question 1

onset

Answer 1

2-6 years

Question 2

symptoms (3)

Answer 2

generalised weakness, trunk and limb muscle wasting first, calves hypertrophy

Question 3

disease affects all

Answer 3

voluntary muscles

Question 4

disease progression speed

Answer 4

slow

Question 5

when is survival rare

Answer 5

beyond 20

Question 6

inheritance is

Answer 6

x linked recessive

Question 7

who are carriers

Answer 7

females

Question 8

what is the most common inherited childhood lethal disoder

Answer 8

DMD

Question 9

how many newborn males affected

Answer 9

1 in 3500-6000

Question 10

how many cases are from new mutations

Answer 10

1 in 3 cases

Question 11

diagnostic factors (2)

Answer 11

proximal lower girdle weakness and elevated creatinine kinase levels

Question 12

CK

Answer 12

creatinine kinase

Question 13

what do parents often report (3)

Answer 13

developmental delay, difficulty with stairs, frequent falls

Question 14

at what age are they wheel chair dependent

Answer 14

7-13

Question 15

what other muscles are affected (2)

Answer 15

cardiac and smooth muscle

Question 16

what happens at age 20 if not on mechanical ventilation

Answer 16

cardiorespiratory failure

Question 17

cardiac disease progression (6)

Answer 17

ECG abnormalities, diastolic dysfunction, MRI fibrosis, carrdiac cavity dilatation, systolic dysfunction, end stage heart failure

Question 18

what happens at age 3-6 (3)

Answer 18

lordotic and waddling gait, Gower’s sign, muscle hypertrophy

Question 19

which muscles become hypertrophied (5)

Answer 19

calf, glutes, vastus lateralis, deltoid, infraspinatus

Question 20

what happens age 6-11

Answer 20

limb and torso muscle strength decreases

Question 21

which muscles are spared

Answer 21

occulomotor

Question 22

why are some muscles spared (3)

Answer 22

small fibre size, lower mechanical stress per unit surface membrane area, increased sarcolemmal expression of compensatory proteins

Question 23

dystrophin gene mutation

Answer 23

Xp21

Question 24

what does an Xp21 gene mutation lead to

Answer 24

dystrophin expression deficiency

Question 25

how many kDa in cytoskeletal dystrophin

Answer 25

427

Question 26

what associated dystrophin proteins are involved (2)

Answer 26

DAP and DGC

Question 27

DAP

Answer 27

dystrophin associated protein

Question 28

DGC

Answer 28

dystrophin glycoprotein complex

Question 29

BMD

Answer 29

Becker muscular dystrophy

Question 30

BMD onset

Answer 30

adolescence or adulthood

Question 31

16