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

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2
Q

Tat Sachs

A

AR B hexosaminidase def
2-6 months
Hyper relxia

Loss of motor milestones
Hypotonia
Feeding difficulties
Cherry red macula

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3
Q

Multiple system atrophy

A

Parkinsonism
Autonomic dysfunction
Multiple Neuro: cerebellar pyramidal it lower motor neuron

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