Myotonia congenita

LABOKLIN Service ID: 8022

This autosomal recessive inherited pathogenic condition affects skeletal muscle ion channels. Clinical signs are hypertrophic skeletal muscles and difficulty in rising after a period of rest. Also characteristic for this disorder is a stiff, lanky gait which can be improved by training and difficulties in swallowing as well as excess salivation. All affected miniature Schnauzers exhibit an abnormal set of teeth and overbite, sometimes also abnormal barking.

Method	TaqMan SNP assay (Miniature Schnauzer); sequencing (Australian Cattle Dog, Border Collie, Labrador Retriever)
Breed list	Australian Cattle Dog, Border Collie, Labrador Retriever, Miniature Schnauzer
Heredity	autosomal recessive
Duration	3 - 5 days after arrival of the sample in the lab (Miniature Schnauzer); 1 - 2 weeks after arrival of the sample in the lab (Australian Cattle Dog, Border Collie, Labrador Retriever)