Neurology Flashcards
central hypotonia is dysfunction of
upper motor neurons
peripheral hypotonia is dysfunction of
lower motor neurons
common history found in hypotonia
decreased fetal movements
breech presentations
seizure in neotnatal period
PE finding for hypotonia
frog-leg position
decrease spontaneous movement
what studies should be worked up for central hypotonia
- head CT
- serum electorlytes
- chromosome study
studies for peripheral hypotonia
- Creatinine kinase
- DNA tests
- nerve conduction studies
- muscle biopsy
Spinal muscular atrophy
anterior motor horn cell degeneration
Werdnig-Hoffman disease
type I spinal muscular atrophy
infantile form
inheritance of spinal muscular atrophy
AR
SNM1 chromosome 5
clinical feature of spinal muscular atrophy
weak cry tongue fasciculations bell-shaped chest frog-leg position normal eye movement and sensory
Diagnosis for spinal muscular atrophy
DNA testing
muscle biopsy
management for spinal muscular atrophy
supportive
toxin of infantile botulism MOA
prevents presynaptic release of acetylcholine
classic first symptoms of infantile botulism
constipation
clinical feature of infantile botulism
- ophthalmoplegia and hyporeflexia
- paralysis is symmetric and descending
Management for infantile botulism
Botulism immune globulin
NO ANTIBIOTICS
myotonia
inability to relax muscles
all survivors of congenital myotonic dystrophy have what
mental retardation
how is congenital myotonic dystrophy inherited
AD
from mom
Hydrocephalus ex vacuo
ventricular enlargement caused by brain atrophy
Chiari type II
downward displacement of cerebellum and medulla through foramen magnum