Neuromuscular

Question 1

cerebral palsy

Answer 1

most common permanent physical peds disability
cause: intrauterine hypoxia or asphyxia
dx: MRI, CT, persistent primitive reflexes (for 2-5yrs)
developmental delay (poor head control, no smiling by 3mo, unable to sit without support at 8mo), excessive irritability, poor feeding (tongue thrusting, gagging)
meds: muscle relaxers (baclofen), analgesia, antiepileptics

Question 2

spina bifida

Answer 2

neural tube defect
cause: lack of folic acid (recommend 0.4mg/day during preconception)
dx: elevated AFP in amniotic fluid via amniocentesis at 6-18wks gestation

Question 3

types of neural tube defect

Answer 3

tethered cord (mild)
meningocele (sac like, moderate, no neuro deficits)
myelomeningocele (open sac protrusion, severe, neurogenic bladder, club foot)

Question 4

duchenne muscular dystrophy (DMD)

Answer 4

genetic muscular wasting disease
X linked pattern, more common in boys
absence of dystrophin protein
onset 3-7 yrs
gower sign and lordosis
clumsiness is 1st sign
wheelchair bound by 11
fatal, by resp or cardiac failure