Hereditary myotonia

LABOKLIN Service ID: 8482

Congenital moytonia is an inherited neuromuscular disorder characterized by the slow relaxation of muscles after voluntary contraction or electrical stimulation. It is caused by a missense mutation in the CLCN1 gene which is responsible for the function of chloride ion channels in the skeletal muscle. Affected foals appear normal at birth. The first symptoms are recurrent episodes of recumbency and difficulty rising to its feet as a result of muscle stiffness. They occur during the first weeks of age and usually increase in the following months. Picking up the limbs is not possible because of the muscle rigidity. The eyebulb may be retracted due to the myotonia.

Method	TaqMan SNP assay, if necessary sequencing
Breed list	German Riding Pony, New Forest Pony
Heredity	autosomal recessive
Duration	3 - 5 days after arrival of the sample in the lab (in case of sequencing 1 - 2 weeks)