Rare diseases · Sign or symptom
Fatty replacement of skeletal muscle
HP:0012548
What it means
Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography.
Rare diseases that can present with this17
Common30–79%
7- Adult-onset distal myopathy due to VCP mutation
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Congenital muscular dystrophy without intellectual disability
- Distal myotilinopathy
- HNRNPA1-related adult-onset distal myopathy
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Oculopharyngeal muscular dystrophy
Sometimes5–29%
7- Adenylosuccinate synthetase-like 1-related distal myopathy
- Autosomal recessive distal nebulin myopathy
- DNAJB6-related limb-girdle muscular dystrophy D1
- Hypokalemic periodic paralysis
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Muscle filaminopathy
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency
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: Skeletal muscle fatty infiltration
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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.