Lecture 35

Question 1

Genetic counselling commences when?

Answer 1

at the time of diagnosis - the aim is disease prevention

Question 2

How many cases are de novo (new mutations?)

Answer 2

up to 1/3

Question 3

When ambulant (walking) the patient is less likely to…

Answer 3

develop contractures, scoliosis

once the child is in a wheelchair they lose alot of indepenedence

Question 4

How do we maintain ambulation (To walk from place to place)?

Answer 4

weight control, diet, exercise

physiotheraphy (active/passive stretching)
-splints and braces

surgical release

corticosteriod therapy

Question 5

Joint contractures in DMD will arise because:

e.g achilles tendon

Answer 5

static positoin in position of flexion
muscle imbalance around joint
fibrotic changes in muscle tissue

Question 6

Surgery for lower extremity contractures may prolong ambulation by..

Answer 6

1-3years

Question 7

_n terms of exercise, there are concerns regarding …

Answer 7

contraction-induced muscle fibre injury

sub-maximal aerobic exercise is best - swimming

Question 8

learning early intervention strategies include

Answer 8

speech therapy
physiotherapy
occupational therapy

Question 9

boys without steroid have a ___% chance of developing scoliosis

Answer 9

90%

Question 10

boys treated with steroids have a greater risk of…

Answer 10

vertebral fractures

Question 11

spinal fusion in DMD:

can slow the rate of

Answer 11

respiratory decline, but doesn’t restore lost pulmonary function

average age of surgery is 14 yr

Question 12

what is Malignant hyperthermia?

Answer 12

a pharmacogenetic predisposition to high fever and muscle breakdown after exposure to some anaesthetic agents (halo

Question 13

The restrictive deficit in respiratory function is from …

Answer 13

weak intercostal muscles

Question 14

what can be done to help respiratory function?

Answer 14

nocturnal assisted ventilation

- relieves symptoms

Question 15

What is the mechanism of action of NIV (Non-invasive ventilation to help sleep)

Answer 15

Ventilator provides air at positive pressure via mask

Improves lung expansion

Improves alveolar ventilation

Question 16

what type of cardiac problem ill be present in all boys by 18 yrs?

Answer 16

dilated cadriomyopathy

• enlargement of the heart, affects pump function

Question 17

________ are seen late in life

Answer 17

arrhythmias

Question 18

Progression of cardiomyopathy can be slowed by..

Answer 18

ACE inhibitors

beta blockers

Question 19

A side effect of seroids is…

Answer 19

hypertension

Question 20

There are regular ___and _________in all boys to monitor cardiac changes

Answer 20

There are regular ECG and echocardiography in all boys to monitor cardiac changes

Question 21

Carriers are at risk of having..

Answer 21

cardiomyopathy - have regular ECGs as well

Question 22

what effects does taking steroids have?

Answer 22

myogenesis

increased muscle mass

stabilisation of muscle fibre membranes

attenuation of muscle necrosis

immunosuppressive effect

Question 23

Steroids can prolong ambulation by

Answer 23

2-3 years and preserve lung function, heart and prevent scoliosis

Question 24

What are the side effects of corticosteroids?

Answer 24

growth failure - short

Weight gain

Bone - avascular necrosis, osteoporosis

Myopathy

Diabetes, skin, hypertension

mood, psychosis

infections

adrenal suppression

Question 25

What are the dietary considerations for DMD?

Answer 25

obesity is common - decreased energy expenditure

late stage: swallowing difficulties, poor oral intake, weight loss

constipation and gastro-oesophageal reflux common in older patients and after surgery

Question 26

true or false

Steroids cause osteoporosis

Answer 26

true

Question 27

Most boys need dietary ____ and vitamin _supplementation with steroid therapy

Answer 27

Most boys need dietary calcium and vitamin D supplementation with steroid therapy

Question 28

What are some complications of poor bone health in DMD?

Answer 28

Fractures (long bone and vertebral)

osteoporosis
scoliosis
bone pain

Question 29

Fratures in _____% of boys with DMD

Answer 29

20-45% usually femoral

Question 30

Boys ambulant prior to fractures may .

Answer 30

lose the ability to walk

Question 31

What are some adult issues around DMD?

Answer 31

delayed puberty
social isolation
depression
employment/vocational training 
cognitive issues

Question 32

Palliate care is aimed at:

Answer 32

maximising quality of life
minimising stress

giving young men choices