Rare diseases · Sign or symptom
Elevated circulating creatine kinase activity
Elevated blood creatine phosphokinase
HP:0003236
What it means
The activity of creatine kinase in the blood circulation is above the upper limit of normal.
Elevated serum creatine kinase (CK) activity is usually an indicator of muscle damage. Diseases with very high CK values include subtypes of muscular dystrophies, idiopathic inflammatory myopathies and metabolic myopathies. However, a normal or only slightly elevated CK value does not exclude the presence of a myopathy. The normal range in the blood circulation is 34-171 U/l in males and 34-145 U/l in females, but may vary according to the test used.
Rare diseases that can present with this121
Very common80–99%
40- Adenylosuccinate synthetase-like 1-related distal myopathy
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- B4GALT1-CDG
- Becker muscular dystrophy
- Congenital muscular dystrophy with cerebellar involvement
- Congenital muscular dystrophy with intellectual disability
- Dimethylglycine dehydrogenase deficiency
- DPM1-CDG
- Drug-induced lupus erythematosus
- Duchenne muscular dystrophy
- Dysferlin-related limb-girdle muscular dystrophy R2
- Emery-Dreifuss muscular dystrophy
- Facioscapulohumeral dystrophy
- FKRP-related limb-girdle muscular dystrophy R9
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Glycogen storage disease due to lactate dehydrogenase deficiency
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- Hereditary continuous muscle fiber activity
- Hyperkalemic periodic paralysis
- Immune-mediated necrotizing myopathy
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Inclusion body myositis
- Isolated glycerol kinase deficiency
- Juvenile dermatomyositis
- LIPE-related familial partial lipodystrophy
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Muscle-eye-brain disease
- Polymyositis
- POMT2-related limb-girdle muscular dystrophy R14
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Schwartz-Jampel syndrome
- TRIM32-related limb-girdle muscular dystrophy R8
- Ullrich congenital muscular dystrophy
- Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
- X-linked Emery-Dreifuss muscular dystrophy
- Xp21deletion syndrome
- Xq12-q13.3 duplication syndrome
- Zebra body myopathy
Common30–79%
39- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Antisynthetase syndrome
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive spastic paraplegia type 48
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- Bethlem muscular dystrophy
- Calpain-3-related limb-girdle muscular dystrophy R1
- Carnitine palmitoyltransferase II deficiency
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Charcot-Marie-Tooth disease type 1B
- Choreoacanthocytosis
- COG7-CDG
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Crimean-Congo hemorrhagic fever
- Danon disease
- Dent disease
- Dermatomyositis
- Distal myotilinopathy
- Epidermolysis bullosa simplex with pyloric atresia
- Focal myositis
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- Glycogen storage disease due to acid maltase deficiency
- Glycogen storage disease due to muscle phosphorylase kinase deficiency
- Glycogen storage disease due to phosphoglycerate mutase deficiency
- GMPPB-related limb-girdle muscular dystrophy R19
- HANAC syndrome
- Hereditary motor and sensory neuropathy, Okinawa type
- Hereditary myopathy with early respiratory failure
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Lower motor neuron syndrome with late-adult onset
- Maternal uniparental disomy of chromosome 4 syndrome
- Multiple acyl-CoA dehydrogenase deficiency
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- NAD(P)HX dehydratase deficiency
- Neuroleptic malignant syndrome
- Osteopetrosis with renal tubular acidosis
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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Elevated circulating creatine phosphokinase · Elevated creatine kinase · Elevated creatine kinase concentration · Elevated creatine kinase level · Elevated creatine kinase level in blood · Elevated serum CPK · Elevated serum creatine kinase · Elevated serum creatine phosphokinase
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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.