Myotonia congenita is an inherited 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 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 testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.