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Last Update: 04/01/2024 02:30 AM
Current Deck: Neurology::Headache
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Electron Microscope shows onion bulb formation; two myelinated fibers surrounded by Schwann cell processes. What is the most likely diagnosis? {{c1::Charcot Marie Tooth (CMT1)}}
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Charcot Marie Tooth (CMT1)
EMG/NCV:
- 1A: caused by point mutations on PMP22 (peripheral myelin protien 22) in chromosome 17p
- 1B: point mutation in P0 gene for myelin protein 0 on chromsome 1
EMG/NCV:
- SNAPs are absent. Motor conduction shows uniform slowing w/ temporal dispersion; NCV reduced
- onion bulb formation; two myelinated fibers surrounded by Schwann cell processes
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