Pseudohypoparathyroidism and hypocalcemic "myopathy". A case report.
A patient with the clinical features of pseudohypoparathyroidism and elevated concentrations of serum CK and LDH, which normalized after successful therapy, is described. Clinical signs of myopathy did not exist. The bioptical material from the m. tibialis anterior was microscopically normal. The biochemical analysis revealed a reduced phosphorylase-a-activity with the total phosphorylase-activity (a and b) being within the normal range. The significance of these findings as well as possible pathogenetic mechanisms are discussed.
D000293:Adolescent; D002118:Calcium / Q000097:blood; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis* / Q000201:enzymology; D007770:L-Lactate Dehydrogenase / Q000097:blood; D009135:Muscular Diseases / Q000201:enzymology; D009468:Neuromuscular Diseases / Q000175:diagnosis*; D011547:Pseudohypoparathyroidism / Q000175:diagnosis* / Q000201:enzymology
D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase; D002118:Calcium