Duchenne muscular dystrophy Flashcards
Duchenne muscular dystrophy cause?
what gene is affected
mutations in the dystrophin gene
dystrophin gene located where?
chromosome Xq28
dystrophin protein normal function?
dystrophin helps makes muscle protein
Duchenne muscular dystrophy surgical sieve it?
inherited
mode of inheritance in Duchenne muscular dystrophy?
X-inked recessive
what is the most common and severe form of muscular dystrophy?
Duchenne muscular dystrophy
Classic presentation for Duchenne muscular dystrophy?
young toddler struggles to walk > this only gets worse
disease course of Duchenne muscular dystrophy?
age 4 muscles feel weak > age 9 can not walk (non-ambulant) > struggle to breathe (need ventilation);
Prognosis for Duchenne muscular dystrophy?
(i.e. age of death)
what is the cause of death?
die at age 20
die from resp failure or infection
Duchenne muscular dystrophy associated with what disease most commonly?
% wise how many DMD pts have it?
dilated cardiomyopathy
50%
Duchenne muscular dystrophy associated with what other diseases/conditions?
-2
scoliosis
intellectual impairment
define DMD?
progressive proximal muscle weakness from 5 years due to dystrophin gene mutation.
symptoms of DMD toddler complains of?
-2
Can not walk
Feel weak
what developmental domain is delayed?
motor delays
DMD signs seen on examiantion?
Gower’s sign
Calf pseudohypertrophy
Scoliosis
Fat grows in muscle
what is Gower’s sign?
child uses arms to stand up from a squatted position
if fat grows in muscle how will this make muscle look?
bigger
why does
Calf pseudohypertrophy happen?
fat deposits inc calf
in DMD blood, which enzyme will be high (associated with muscles)?
creatinine kinase
Ix to diagnose DMD?
gene testing
Mx for DMD depends on what?
on what stage of the disease they are at
DMD pt has ambulation.
Mx? - 2
- 1 is drug
- other is someone you refer to
prednisolone
physiotherapy
DMD pt does not have ambulation.
mainstay Mx?
-1
physiotherapy only
DMD pt struggles to breathe.
mainstay Mx?
-1
intermittent positive pressure ventilation
