Elevated level of creatinine phosphokinase in the blood of patients with peripheral polyneuropathies

Abstract

Creatinine phosphokinase (CPK) elevated levels in blood are distinguished marker of neuromuscular diseases, especially myopathies, but can be found in great number of diseases as in hearth and brain tissue damages, some endocrine disturbances, malignant diseases, toxic and unwanted effects, febrile states, excessive motor activity. In inherited polyneuropathies, CPK levels are within normal values. Recently, hereditary peripheral sensomotor axonal, autosomal recessive polyneuropathy, associated with neuromyotonia (HINT1 polyneuropathy) has been recognized. Frequency and levels of hyper-CPK determination in HINT1 polyneuropatahy were examined in 31 patients (11 male/20 female), with HINT1 polyneuropathy and founder R37P mutation in HINT1gene. Elevated CPK levels (183–1170 IU/L) were found in HINT1 polyneuropathy patients. Levels >500 IU/L were found in generalized myothonia patients. Elevated CPK blood levels may be a direct consequence of electrophysiologically confirmed generalized neuromyotonia. Electromyography with nerve conduction study is very important for recognition of axonal polyneuropathy with neuromyotonia, in differential diagnosis of myotonic dystrophy and other myotonic disorders.