Lecture 33 - Cinical aspects of DMD

Question 1

DMD is caused by..

Answer 1

loss of dystrophin

Question 2

True or False

only boys get DMD

Answer 2

true X linked

• females can be carriers

Question 3

children are usually diagnosed between the ages of

Answer 3

2-4

in wheelchair by 13

Question 4

The most common presentation of DMD is

Answer 4

delayed motor milestones

Or Gait difficulties, difficulty running

Question 5

Physical examinations usually show:

Waddling \_\_\_
\_\_\_\_\_weakness
enlarged \_\_\_\_ muscles
\_\_\_muscles spared
weak \_\_\_ flexors
Lumbar \_\_\_\_\_\_\_

Answer 5

Waddling gait
Proximal weakness
enlarged rubbery muscles
facial muscles spared
weak neck flexors
Lumbar lordosis

Question 6

True or False

there is extra-ocular muscle weakness in DMD

Answer 6

false

they are spared

Question 7

The muscles look bigger in DMD due to _____

Answer 7

fibrosis

Question 8

Gowers’ sign is a differnt and more diffcular way of ..

Answer 8

getting up from lying down

Doesn’t necessarlity mean its DMD, but DMDpeople will have it - proximal weakness

Question 9

____ _____ _____can be found in blood of DMD patients as a reuslt of leakage from the muscles (no dystrophin)

Answer 9

serum creatine kinase can be found in blood of DMD patients as a reuslt of leakage from the muscles (no dystrophin)

Question 10

Thyroid fucntion tests can be used as …

Answer 10

Hypothyroidism can look very much like DMD

Question 11

Genetic testing by MLPA can be positive in ___% cases

Answer 11

Genetic testing by MLPA can be positive in 60-70% cases

Question 12

Last case scenari - do a muscle ___ if genetic tests are negative

Answer 12

muscle biopsy

Question 13

what is the prognosis phases of DMD (natural history)

Answer 13

3-6 years -honeymoon phase (mild weknes)

8 yes: difficulty climbing stairs, walking increase lumbar lordosis

10-13 yrs: transition to wheelchair

late teens/early 20s: respiratory (most common COD) and cardiac failure

Question 14

Where are the difference in BMD

Answer 14

onset 5-15 yes

able to walk after 15 yrs

respiratory failure at 40

cardiomyopathy is MORE common in BMD

Question 15

In all neuromuscular disorders, respiratory muscle function is worst in ___

Answer 15

sleep

decreased respiratory muscle tone and central drive

Question 16

Sleep-disordered breathing (CDB) is worst in …

Answer 16

REM sleep

can manifest with sleepiness, headache etc…

Question 17

in DMD you see _____ lung disease

Answer 17

restrictive lung disease

Reduced expansion of lung parenchyma and decresed total lung capacity

FEV is the same usually (no obstruction)

Question 18

Cardiac involvement in DMD and BMD is usually in the form of ____ _______

Answer 18

Dilated cardiomyopathy

decreased left ventricular contractility, occasional cardiac failure

Question 19

Cardiomyopathy in DMD is commly ____

Answer 19

asymptomatic

symptoms often minimal until late owing to musculoskeletal limitations

Question 20

Cardiac death is in __% of cases, and is more common in BMD

Answer 20

Cardiac death is in 10% of cases, and is m_ore common in BMD

Question 21

True or False

ALL boys with DMD at 18yrs will have some cardiomyopathy

Answer 21

true

Question 22

Early __-walking is common

Answer 22

Early toe-walking is common

Question 23

_____ is resultant from sitting all the time, inbalance in spine

Answer 23

scoliosis is resultant from sitting all the time, inbalance in spine

Question 24

Does scoleosis repair improve lung function?

Answer 24

no

Question 25

CNS involvement is mainly to do with …..

Answer 25

verbal IQ

Question 26

There is selective impairment of verbal _____ memory skills leading to an increased risk of learning difficulty

Answer 26

There is selective impairment of verbal working memory skills leading to a increased risk of learning difficulty

Question 27

Cognitive problems in DMD may be ______

Answer 27

multifactorial

school absenses
axiety
depression
behavioural problems (increased by steriods)
effect upon family