Myotonia congenita (MC)is a hereditary disease which can be tested with a DNA test . Myotonia congenita is an hereditary disease condition characterized by delayed relaxation of skeletal muscle after voluntary contraction without associated symptoms of weakness or muscular dystrophy (Rhodes 1999). The delay in skeletal muscle relaxation is not accompanied by pain. This inherited pathogenic condition affects skeletal muscle because of poor voltage-dependent chloride channel CIC-1 conductance. This electrochemical disorder originates from a missense mutation in the canine CLCN1 gene. 

Dogs affected with this hereditary disease have significant excessive growth of the muscles (muscle hypertrophy), non-painful muscle spasms, collapse associated with exercise and activity, so-called 'bunnyhop' type movement which can be improved by training, noisy breathing (stridor), troubled breathing (dyspnea), problem with the voice (dysphonia)... Difficulty in swallowing, excessive salivation and an abnormal bark are often present. All affected miniature Schnauzers exhibit an abnormal set of teeth and have a deformed lower jaw, and sometimes abnormal barking. Young dogs start to show symptoms as early as of a few weeks of age. .

Inheritance: autosomal recessive - read more

Mutation:  CLCN1  gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age. 

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.