12 top medical experts on Dimauro disease across 4 countries and 2 U.S. states, including 2 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Dimauro disease: Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: Deficiency Mutase Phosphoglycerate,  Glycogen Storage Disease X,  Gsd X,  Gsd10,  Human muscle phosphoglycerate mutase deficiency,  Myopathy due to phosphoglycerate mutase deficiency,  PGAMM deficiency,  Pgam Deficiency,  Phosphoglycerate Mutase Deficiency,  Deficiency of Muscle Phosphoglycerate Mutase


  

        

                    


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