Mitochondrial Medicine & Neurogenetics (MMN)


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POLG Registry

The Norwegian national register for polymerase-gamma (POLG) related diseases (Norsk kvalitetsregister for polymerase-gamma (POLG) relatert sykdom)



POLG mutations are common in Norway and cause a broad spectrum of disease often with severe morbidity and high mortality. Currently, we know little of why some mutations in POLG cause catastrophic disease shortly following birth while others appears as late-onset disorders affecting eye movement (progressive external ophthalmoplegia). In order to examine these and other questions, large epidemiological studies are essential. We need to characterize the natural course of these syndromes and identify risks, complications and biological and environmental disease-modifying factors. Norway is uniquely placed to perform this type of work because of the way the health service is set up and the exceptionally good data collection.

We have established a national registry which includes all patients from Norway with a genetic diagnosis showing mutations in either POLG1 or POLG2 genes. This includes all patients since POLG testing started in 2005. The registry has been approved by the Norwegian Directorate of Health and is run by The Mitochondrial Medicine Centre (MMN)- Haukeland University hospital. Collaboration has also been established with university hospitals covering all parts of Norway. Participation in the registry is based on a written informed consent.

Clinical records form is web-based and includes details of clinical, laboratory, neurophysiological and radiological data. This is a unique material which will allow comprehensive epidemiological studies in a large group of patients.


  • To study the prevalence, clinical spectrum and natural history of POLG disease in Norway.
  • To provide better understanding of genotype-phenotype correlation.
  • To improve the service to patients with mitochondrial disorders.
  • To increase the awareness regarding mitochondrial disorders among physicians.

Further details

For further details regarding POLG registry and contact information, please refer to registry website: www.polgregister.no .