Phenotypes associated with the disease creatine phosphokinase, elevated serum (OMIM:123320):
- Abnormal muscle fiber morphology (HP:0004303): Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. Evidence: PCS. (PMID:9660505)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:9660505)
- Increased muscle fatiguability (HP:0003750): An abnormal, increased fatiguability of the musculature. Evidence: PCS. (PMID:9660505)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. (PMID:9660505)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: PCS. (PMID:9660505)
- Muscular dystrophy (HP:0003560): The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. Evidence: PCS. (PMID:9660505)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. (PMID:9660505)
- Inflammatory myopathy (HP:0009071): Chronic muscle inflammation accompanied by muscle weakness. Evidence: PCS. (PMID:9660505)
- Mitochondrial myopathy (HP:0003737): A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. Evidence: PCS. (PMID:9660505)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:123320)
- Exercise-induced muscle cramps (HP:0003710): Sudden and involuntary contractions of one or more muscles brought on by physical exertion. Evidence: IEA. (OMIM:123320)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: PCS. (PMID:9660505)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. (PMID:9660505)