MCARDLES DISEASE - DESCRIPTION BASED ON 3 OWN OBSERVATIONS
- 1 January 1978
- journal article
- research article
- Vol. 46 (6) , 312-326
Abstract
Characteristic symptoms are a premature tiring of the musculature and painful muscle contractions; in the late state of the disease, mild muscle atrophy can also occur. Te ischemia test is pathologic. Myoglobinuria often occurs after major strain. Studies by light microscopy and EM demonstrated an increased glycogen deposition in the muscle fiber. The diagnosis is verified by histochemical and biochemical evidence of muscle phosphorylase deficiency. Routine histologic investigation of muscle biopsy is not sufficient to identify the disease. Despite the established enzyme defect and the resulting impairment of anerobic energy availability, the genesis of the disease or syndrome is not yet fully clarified.This publication has 4 references indexed in Scilit:
- The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adultZeitschrift für Neurologie, 1976
- The Second Wind Phenomenon in McArdle's SyndromeActa Medica Scandinavica, 1967
- Contracture in McArdle's DiseaseArchives of Neurology, 1965
- Studies on the creatine kinase equilibrium in muscle and the significance of ATP and ADP levelsBiochemical and Biophysical Research Communications, 1962