Pediatric Myopathies Flashcards
what is a developmental milestone assessment?
determines if a child is keeping up with expected milestones
what does a failed milestone assessment mean?
a more thorough evaluation is needed
what are the 4 domains of pediatric development?
gross motor
fine motor
language
cognitive/social/behavioral
what is the importance of intervention with developmental delays?
the earlier the intervention, the better the outcome
what does it mean if a child has achieved a milestone, but then it regresses?
very concerning! think progressive disease
2 month old milestone
hold chin up in prone position
4 month old milestone
roll over
6 month old milestone
sit briefly without support
9 month old milestone
pull to stand
12 month old milestone
stand without support
2 year old milestone
run with coordination
3 year old milestones
pedal tricycle
climb stairs with alternating feet
4 year old milestone
balance on one foot
what is the DDST-II?
denver developmental screening test
assesses the 4 major domains of development
what is the M-CHAT-R?
modified checklist for autism in toddlers
given at 18 m/o and 24 m/o
what is weakness?
decreased ability to voluntarily and actively move muscles against resistance
what is hypotonia?
decreased muscle tone
can occur with or without weakness
*think neuro involvement
what is duchenne muscular dystrophy?
X-linked recessive mutation in the dystrophin gene
absent or non-functional dystrophin
results in diffuse muscle membrane tears, necrosis and fibrosis
what is the clinical presentation of DMD?
symmetric proximal muscle weakness no neck flexor strength delayed walking/running/keeping up with peers waddling gait with exaggerated lordosis scoliosis cognitive dysfunction gower's sign
at what age does DMD typically present?
1.5-2 y/o
when do DMD patients lose their ability to walk?
by 9-10 y/o
what is the life expectancy of DMD?
late teens to mid-20s
what are possible CoD in DMD patients?
compromised respiratory status
cardiomyopathy
gastric hypo-mobility
what will you see on labs in DMD?
elevated CK
what is the treatment for muscular dystrophy?
steroids can help but not cure both forms
which form of MD is more common?
DMD
what is becker muscular dystrophy?
x-linked recessive mutation in dystrophin gene
production of abnormal or semi-functional dystrophin
same pathogenesis as DMD but less severe
what is the clinical presentation of BMD?
symmetric proximal muscle weakness
neck flexors preserved
cognitive function preserved
at what age does BMD typically present?
not earlier than 5 y/o
when do BMD patients lose their ability to walk?
20s or later
what is the life expectancy of BMD?
40s-60s
what will you see on labs in BMD?
elevated CK but not as high as DMD
what is the Gower maneuver and what is its clinical significance?
child goes from laying flat on the stomach to standing upright in a sequence of postures
sign of severe proximal muscle weakness
what is the clinical presentation of congenital muscular dystrophies?
hypotonia and severe symmetric muscle weakness present at birth or during infancy
joint contractures often present
possible brain/eye malformation or cardiomyopathy
what is the inheritance of CMD?
AR mutation in structural proteins of the extracellular or intracellular matrix
what is Pompe disease?
glycogen storage disorder type 2
AR mutation in the alpha-glucosidase gene
build-up of glycogen in lysosomes
what is the clinical presentation of Pompe disease?
generalized weakness and hypotonia
cardiomyopathy
respiratory issues
feeding difficulty
what is the treatment for Pompe disease?
enzyme therapy
what is juvenile dermatomyositis?
the most common acquired idiopathic myopathy in children
autoimmune systemic disease with onset at 7 y/o
what are the clinical findings of juvenile dermatomyositis?
generalized symmetric muscle weakness
heliotrope rash with periorbital edema
Gottrons papules
thrombi or hemorrhage in peri-ungal beds
if many enzymes are elevated, what lab value can be helpful in determining the etiology in patients with suspected myopathy?
serum GGT
elevated = liver normal = muscle
