Pediatric Myopathies Flashcards
At what ages are infants screened for autism? What test is used? What does a failed test mean?
18m & 24m
M-CHART-R
- modified checklist for autism in toddlers, revised
An indication for further testing/evaluation
Does the MMR vaccine cause autism?
No
Is autism becoming more common?
Probably not, docs are better-trained w/ better tools to identify it now
What’s the block equation for kids?
3 blocks to stack every 1 years, so..
Yo x 3 blocks = # of blocks should be able to stack
Muscle strength exam results noted as:
0 = no m contraction detected 1 = trace contractions noted 2 = active body movement when gravity eliminated 3 = active movement against gravity 4 = active movement against gravity and small resistance 5 = active movement against full resistance, normal strength
What two lab findings are associated w/ rhabdomyolysis?
Inc creatinine Inc myoglobin (ruins kidneys)
Hypotonia often presents with what for muscle strength?
Normal muscle strength
What mm often lack tone in a child w/ poor tone?
Neck flexor mm
What’s the genetic characteristic of DMD?
X-linked recessive
What risk is associated w/ carrier mom’s of DMD gene mutations in their family?
Cardiomyopathy
What is the type of mutation seen in DMD?
Out-of-frame (frameshift) mutation disrupting the ENTIRE dystrophin gene
Common cause of death in DMD?
Respiratory failure (restrictive and obstructive processes)
What’s the tx for Pompe dx?
Myozyme
What enzyme mutation is associated w/ Pompe dx?
Alpha-glucosidase
What type of mutation is associated w/ myotonia congenita?
Mutation in chloride channel (CLCN-1)
