The paucisymptomatic and asymptomatic hyperCKemia are syndromes that may represent a muscle disease in a benign or pre-clinical stage. They are often idiopathic and generate uncertainty about the long-term prognosis. The aim of the study is to analyze a series of 354 cases have been studied muscle biopsy over a period of 15 years. Patients and Methods: Patients referred with serum CK levels above 250 IU / L in which primary causes have been excluded. They were studied by: DBS Pompe, MLPA, EMG, MRI, muscle biopsy (histological and protein) and genetic analysis. The series consists of of 276 men and 78 women. 85 cases are familial and 49 are hyperckemias maintained after treatment with statins and 127 are absolutely asymptomatic. DBS test for Pompe and the MLPA gene dystrophin, yields high sensitivity as pre-tests muscle biopsy. The EMG does not have a high sensitivity but may be useful in some cases. MRI not have diagnostic specificity but if have a high predictive ability in evolution. The biopsy, showed alterations in 96% of cases, with 48% unspecific changes. The protein / enzyme study showed deficits in calpain, dystrophin, dysferlin, caveolin, lamin, sarcoglycans, alpha-dystroglycan, myophosphorylase and mitochondrial respiratory chain; confirming only 38% as primary causes through genetics. The design of a panel of genes involved in myofibrillar myopathies and LGMD, increased 10% diagnosed cases. The analysis of the evolution of patients with HCK, showed that 27% remained asymptomatic and only 19% go on to develop weakness. With the set of studies is diagnosed to 35% of the series leading to a new approach and strategy for dealing with the HCK and the proposal of a new diagnostic algorithm. Conclusions: Our series of hiperCKemias has a different profile in some points to the 3 major international series published (Prelle et al 2002; Fernandez et al 2006 and Fanin et al 2009...), the differences are mainly explained by methodological differences as application a panel of genes to increase the diagnostic performance and regional changes in prevalence, but anyway the classic method applied at first, confirms the profile described in the guide to EFNS (Kyriakides et al. 2008). As innovative points include the use of MRI as a tool in the evolution of HCK for its predictive value and the implementation of a panel of genes before biopsy. The results lead us to propose a new diagnostic algorithm. The study of the evolution of patients was relevant because it showed that 81% of patients remain benign forms, resulting in a natural model of interest for the design of new therapies and analysis of prognostic biomarkers.
