Rare diseases · Sign or symptom
Mildly elevated creatine kinase
HP:0008180
Rare diseases that can present with this27
Very common80–99%
4Common30–79%
15- Adult-onset distal myopathy due to VCP mutation
- Autosomal dominant centronuclear myopathy
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- Congenital muscular dystrophy without intellectual disability
- Distal myopathy, Welander type
- HNRNPA1-related adult-onset distal myopathy
- Laing distal myopathy
- Mitochondrial DNA-related progressive external ophthalmoplegia
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Neurogenic arthrogryposis multiplex congenita
- Tibial muscular dystrophy
- Vocal cord and pharyngeal distal myopathy
Sometimes5–29%
7- Childhood-onset nemaline myopathy
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Infantile-onset X-linked spinal muscular atrophy
- Myopathic Ehlers-Danlos syndrome
- Proximal myopathy with extrapyramidal signs
- Tako-Tsubo cardiomyopathy
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: Mildly elevated CPK · Mildly elevated creatine phosphokinase · Mildly elevated serum CK · Mildly elevated serum CPK · Mildly elevated serum phospho-CK · Mildly increased creatine kinase · Mildly increased serum creatine kinase · Moderately elevated serum CK
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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.