Myofibrillar myopathy

What it means

Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.

This feature is demonstrated by muscle biopsy.

Rare diseases that can present with this3

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

Also called: Myofibrillar changes