Unverricht-Lundborg disease (EPM1) in Finland

Abstract

Objective:To investigate the epidemiology and prognosis of Unverricht–Lundborg disease (EPM1) in a nationwide, population-based setting.Methods:Data from multiple registries were combined and analyzed. Clinical data was obtained from medical records. All patients treated for EPM1 in Finland between January 1, 1998 and December 31, 2016 were included.Results:135 persons with EPM1 (54 % women) were identified and 105 were alive on 31 December 2016 (point prevalence 1.91/100,000 persons). The age-standardised (European Standard Population 2013) prevalence was 1.53/100,000 persons. Annual incidence during the study period was 0.022/100,000 person-years, with a mean age of onset of 9.4 ± 2.3 years (range 7.0–14.6 years, no gender difference). The median age of death (N=34) was 53.9 (interquartile range 46.4, 60.3; range 23.2–63.8) years, with no gender differences. The immediate cause of death had been a lower respiratory tract infection in 56% of deaths. The survival rates of the patients were comparable to matched controls up to 40 years of age, but poorer during long-term follow-up (cumulative survival 26.4% vs. 78.0%), with a hazard ratio for death of 4.61. The risk of death decreased with increasing age of onset (HR 0.76 per year, 95% CI 0.65-0.89). In approximately 10% of all cases, the disease progression appeared very mild; some patients retained functional independence for decades.Conclusions:Unverricht–Lundborg disease is rare in Finland but still more common than anywhere else in the world. The disease course appears somewhat more severe than elsewhere, disability mounts early and death occurs prematurely.

Comorbidities in patients with Unverricht–Lundborg disease ( EPM1 )

“…Briefly, national mandatory registries, patient records and laboratory data were used to identify the 135-person (54% women) cohort of persons with EPM1 in Finland between 1 January 1998 and 31 December 2016. 5…”

“…Current information points to it having a role in protecting against the proteinases leaking from lysosomes, but its function is inadequately understood.The clinical course of EPM1 is variable but and early retirement. 1,2,5 Beyond the nervous system, abnormal skeletal findings have been reported, 6 but little information is available concerning…”

“…The clinical course of EPM1 is variable but and early retirement. 1,2,5 Beyond the nervous system, abnormal skeletal findings have been reported, 6 but little information is available concerning…”

“…The prognosis is highly variable but, on average, the patients have poorer survival compared to matched controls. 5 Identifying and treating possible co-occurring diseases could provide a way to improve the prognosis. We therefore investigated the occurrence of comorbid diseases and injuries in a population-based cohort of EPM1 patients.…”

Cognitive functioning in progressive myoclonus epilepsy type 1 (Unverricht-Lundborg Disease, EPM1)

“…Among the progressive myoclonus epilepsies, EPM1 has the highest worldwide incidence [1]. It is clustered in Finland, with an age-standardized prevalence of 1.53/100,000 [2]. It is also common in Western Mediterranean regions but has been diagnosed in populations around the globe since genetic testing became widely available [3,4].…”