Week 4 Flashcards
1
Q
Neiman pick path and sx
A
AR sphingomyelinase def
Hepatosplenomegaly
Areflexia
Loss of motor milestones
Hypotonia
Feeding difficulties
Cherry red macula
2
Q
Tat Sachs
A
AR B hexosaminidase def
2-6 months
Hyper relxia
Loss of motor milestones
Hypotonia
Feeding difficulties
Cherry red macula
3
Q
Multiple system atrophy
A
Parkinsonism
Autonomic dysfunction
Multiple Neuro: cerebellar pyramidal it lower motor neuron