Neuromuscular Disorders Flashcards
1
Q
What EMG picture would GBS show?
A
Acquired multifocal demyelination
2
Q
What gene defect causes CMT1A?
A
PNP22 gene
3
Q
What disease does PNP22 gene mutation cause?
A
CMT1A
4
Q
What is the basic pathophysiology of botulism?
A
Defect in synaptic vesicular docking
5
Q
What cause critical illness myopathy?
A
Often seen with steroids plus non-depolarising muscle agents in non mobile patients
Leads to myosin degradation
6
Q
What are ragged red fibres?
A
Subsarcolemmal mitochondrial accumulation
