Insulin-dependent diabetes mellitus and Friedreich's ataxia in siblings

Stephen Podolsky, William A. Sheremata

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


Two female siblings with Friedreich's ataxia became acutely diabetic at ages 15 and 21 years, requiring insulin therapy for the duration of their lives. Diffuse precordial T wave inversion was present in the electrocardiograms of both, typical of the myocardial fibrosis of Friedreich's ataxia. The younger patient had a myocardial infarction at age 43 and died of a pulmonary embolus after 31 years of diabetes mellitus. The older sister is 59 years of age at the time of this report, and severely handicapped, having been diabetic for 38 years. Seventy-two previous cases have been reported with both diabetes mellitus and Friedreich's ataxia. Practically all were insulin dependent. In 13 prior instances the association also occurred in two or more members of a family. Twenty-two of the 29 members of families have been female, although Friedreich's ataxia alone is slightly more common in males. Consanguinity was established to be present in four of the 14 families. The connection between juvenile diabetes and Friedreich's ataxia may be due to pleiotropic effects of an abnormal gene in homozygous form.

Original languageEnglish (US)
Pages (from-to)555-561
Number of pages7
Issue number8
StatePublished - Aug 1970

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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