- 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. Frequency: 8/8. (PMID:9537420)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 8/8. (PMID:9537420)
- Percussion-induced rapid rolling muscle contractions (HP:0003760): Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. Evidence: IEA. (OMIM:606072)
- Gowers sign (HP:0003391): A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. Evidence: PCS. Frequency: 4/4. Onset: Adult onset (HP:0003581). (PMID:9537420)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: PCS. Frequency: 8/8. (PMID:9537420)
- Muscle mounding (HP:0003719): Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds. Evidence: IEA. (OMIM:606072)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: IEA. (OMIM:606072)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: IEA. (OMIM:606072)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 8/8. (PMID:9537420)
- Muscle hyperirritability (HP:0003559). Evidence: IEA. (OMIM:606072)
- 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: PCS. (PMID:9537420)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: IEA. (OMIM:606072)
- Exercise-induced muscle cramps (HP:0003710): Sudden and involuntary contractions of one or more muscles brought on by physical exertion. Evidence: PCS. Frequency: 2/8. (PMID:9537420)
- Exercise-induced muscle stiffness (HP:0008967): A type of muscle stiffness that occurs following physical exertion. Evidence: IEA. (OMIM:606072)
These phenotypes are associated with the disease rippling muscle disease 2 (OMIM:606072).