Genetic Test
CLCN1 (Chloride Channel Protein 1) encodes the chloride channel protein 1, which functions as an ion channel essential for muscle contraction. This test targets a single gene variant associated with myotonia.
Disease Description
Myotonia refers to a condition in which muscles do not relax rapidly after maximum contraction. It is a disorder where the muscle fiber membrane becomes abnormally sensitive to stimulation, causing difficulty in relaxing muscles after contraction. These symptoms tend to occur when specific muscles are moved after a period of rest. Myotonia is often first detected when muscle stiffness appears in the legs after activity. Additionally, generalized muscle hypertrophy may be observed, resulting in an appearance similar to that of a bodybuilder.
