Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.

ABSTRACT:

Objective

To investigate the prevalence and natural history of POLG disease in the Norwegian population.

Methods

A national, population-based, retrospective study using demographic, clinical, and genetic data of patients with genetically confirmed POLG disease. The patients were diagnosed between 2002 and 2022, and were included into the Norwegian POLG Patient Registry. Patients were stratified according to age at disease onset (early <12 years, juvenile to adult 12-40 years, late ≥40 years) and resident region.

Results

Ninety-one patients were included. The point prevalence of POLG disease was 1:149,253. Birth prevalence was 1:48,780. Median age at clinical onset was 16 years (range: 2 months to 70 years). Onset occurred early in 35% (32 out of 91), juvenile-adult in

SUBMITTER: Kristensen E 

PROVIDER: S-EPMC11251482 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature