Lecture 35 Flashcards
Genetic counselling commences when?
at the time of diagnosis - the aim is disease prevention
How many cases are de novo (new mutations?)
up to 1/3
When ambulant (walking) the patient is less likely to…
develop contractures, scoliosis
once the child is in a wheelchair they lose alot of indepenedence
How do we maintain ambulation (To walk from place to place)?
weight control, diet, exercise
physiotheraphy (active/passive stretching)
-splints and braces
surgical release
corticosteriod therapy
Joint contractures in DMD will arise because:
e.g achilles tendon
static positoin in position of flexion
muscle imbalance around joint
fibrotic changes in muscle tissue
Surgery for lower extremity contractures may prolong ambulation by..
1-3years
_n terms of exercise, there are concerns regarding …
contraction-induced muscle fibre injury
sub-maximal aerobic exercise is best - swimming
learning early intervention strategies include
speech therapy
physiotherapy
occupational therapy
boys without steroid have a ___% chance of developing scoliosis
90%
boys treated with steroids have a greater risk of…
vertebral fractures
spinal fusion in DMD:
can slow the rate of
respiratory decline, but doesn’t restore lost pulmonary function
average age of surgery is 14 yr
what is Malignant hyperthermia?
a pharmacogenetic predisposition to high fever and muscle breakdown after exposure to some anaesthetic agents (halo
The restrictive deficit in respiratory function is from …
weak intercostal muscles
what can be done to help respiratory function?
nocturnal assisted ventilation
- relieves symptoms
What is the mechanism of action of NIV (Non-invasive ventilation to help sleep)
Ventilator provides air at positive pressure via mask
Improves lung expansion
Improves alveolar ventilation
what type of cardiac problem ill be present in all boys by 18 yrs?
dilated cadriomyopathy
- enlargement of the heart, affects pump function
________ are seen late in life
arrhythmias
Progression of cardiomyopathy can be slowed by..
ACE inhibitors
beta blockers
A side effect of seroids is…
hypertension
There are regular ___and _________in all boys to monitor cardiac changes
There are regular ECG and echocardiography in all boys to monitor cardiac changes
Carriers are at risk of having..
cardiomyopathy - have regular ECGs as well
what effects does taking steroids have?
myogenesis
increased muscle mass
stabilisation of muscle fibre membranes
attenuation of muscle necrosis
immunosuppressive effect
Steroids can prolong ambulation by
2-3 years and preserve lung function, heart and prevent scoliosis
What are the side effects of corticosteroids?
growth failure - short
Weight gain
Bone - avascular necrosis, osteoporosis
Myopathy
Diabetes, skin, hypertension
mood, psychosis
infections
adrenal suppression
