Genetic Test
The CLCN1 (Chloride Channel Protein 1) gene encodes an ion channel protein involved in the transport of chloride ions and protons across the cell membrane.
This transport plays a crucial role in maintaining the membrane potential—a difference in ion concentrations across the cell membrane—that is essential for the normal contraction and relaxation of muscle fibers.
The CLCN1 protein regulates chloride ion flow in skeletal muscle cells, helping to stabilize electrical activity and prevent prolonged muscle contraction.
Mutations in this gene can disrupt this process, leading to myotonia, a condition characterized by delayed muscle relaxation after voluntary contraction.
This genetic test screens for four known mutations in the CLCN1 gene that are associated with myotonia.
Disease Description
Myotonia is a neuromuscular condition in which muscles fail to relax quickly after voluntary contraction, resulting in delayed muscle relaxation.
This disorder is caused by abnormalities in the muscle fiber membrane of skeletal muscles, leading to
hyperexcitability
, where muscles either overreact to stimulation or continue to contract even without further input.
Affected dogs may have difficulty relaxing specific muscles after contraction, especially following periods of rest.
The condition often becomes noticeable when a dog begins to move after lying down, showing stiffness or hesitation in motion due to delayed muscle relaxation.
