Rare diseases · Sign or symptom
Increased variability in muscle fiber diameter
HP:0003557
What it means
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
This finding can be demonstrated by muscle biopsy.
Rare diseases that can present with this28
Very common80–99%
4Common30–79%
22- Adult-onset nemaline myopathy
- Alpha-B crystallin-related late-onset myopathy
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- Childhood-onset nemaline myopathy
- Congenital multicore myopathy with external ophthalmoplegia
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Distal myopathy, Tateyama type
- Distal myotilinopathy
- DNAJB6-related limb-girdle muscular dystrophy D1
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- GNE myopathy
- Hereditary myopathy with early respiratory failure
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Myopathic Ehlers-Danlos syndrome
- POMT1-related limb-girdle muscular dystrophy R11
- Proximal myopathy with extrapyramidal signs
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Tibial muscular dystrophy
- Tubular aggregate myopathy
- Typical nemaline myopathy
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: Increased fiber size variation · Increased fibre size variation · Increased variability in muscle fiber size · Increased variability in muscle fibre diameter · Increased variability in muscle fibre size · Increased variation in fiber size · Increased variation in fibre size · Increased variation in muscle fiber size
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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.