Rare diseases · Sign or symptom
Accumulation of muscle fiber desmin
HP:0030225
What it means
Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.
Rare diseases that can present with this1
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: Accumulation of muscle fibre desmin · Muscle fiber desmin-reactive inclusion bodies · Muscle fibre desmin-reactive inclusion bodies
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.