Friedreich's Ataxia related Diabetes: Epidemiology and management practices.

ABSTRACT:

Aims

Friedreich's Ataxia (FRDA) is a progressive neuromuscular disorder typically caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be complicated by diabetes mellitus (DM). The objective of this study was to describe the prevalence of, risk factors for, and management practices of FRDA-related DM.

Methods

FACOMS, a prospective, multi-site natural history study, includes 1,104 individuals. Extracted data included the presence of DM and other co-morbidities, genetic diagnosis, and markers of disease severity. We performed detailed medical record review and a survey for the subset of individuals with FRDA-related DM followed at one FACOMS site, Children's Hospital of Philadelphia.

Results

FRDA-related DM was reported by 8.7% of individuals.

SUBMITTER: Tamaroff J 

PROVIDER: S-EPMC9075677 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature