Peripheral hypomyelination

What it means

Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.

This finding can be demonstrated by nerve biopsy.

Rare diseases that can present with this2

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category