- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45)
- Exercise-induced muscle fatigue (HP:0009020): An abnormally increased tendency towards muscle fatigue induced by physical exercise. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45)
These phenotypes are associated with the disease Adenosine monophosphate deaminase deficiency (ORPHA:45).
The following phenotypes are NOT associated with this disease:
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: TAS. (ORPHA:45)
- Elevated creatine kinase after exercise (HP:0008331). Evidence: TAS. (ORPHA:45)