Phenotypes associated with the disease Glycogen storage disease due to muscle phosphorylase kinase deficiency (ORPHA:715):
- Camptocormia (HP:0100595): An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:715)
- Progressive muscle weakness (HP:0003323). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:715)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:715)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:715)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:715)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:715)
- Increased muscle glycogen content (HP:0009051): An increased amount of glycogen in muscle tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:715)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:715)
- Reduced muscle phosphorylase kinase activity (HP:6000198): Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:715)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:715)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:715)
- Myoglobinuria (HP:0002913): Presence of myoglobin in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:715)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:715)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:715)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:715)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:715)