A Case of Diabetic Amyotrophy Associated With 3243 Mitochondrial Trna(Leu; Uur) Mutation And Successful Therapy With Coenzyme Q10

Abstract

We report the case of 71-year-old male who was once diagnosed as having diabetic amyotrophy, because of pronounced wastingin proximal muscles, massive weight loss, and development of paresthesiain his legs. Afterwards, ragged red fibers and mitochondrial tRNA mutation at position 3243 were documentedin muscle biopsy. He had diabetes mellitus associated with 3243 mitochondrial DNA mutation, suggesting that clinically, diabetic amyotrophy may be overlapped with mitochondria-related disease entitiesin some parts. Coenzyme Q10 administration was effectivein relieving the symptomsin his legs, fatigue, and residual urinein his bladder. These were confirmed with the improvementin neurological parameters.in conclusion, this case gives important helpin understanding myopathyin diabetes. It would be important to check on the 3243 mitochondrial tRNA mutationin patients with diabetic amyotrophy and/or diabetic neuropathic symptoms. © 1995, The Japan Endocrine Society. All rights reserved.