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H498 Myotonia Congenita 2


Myotonia congenita is a hereditary pathogenic condition affecting skeletal muscle ion channels and is characterized by a delay of relaxation of the skeletal muscles following an electrical or mechanical stimulus or after cessation of voluntary activity. Myotonia congenita results from genetic defects in the skeletal muscle chloride ion channel and the ensuing reduced chloride ion conductance across the sarcolemma. Myotonic Miniature Schnauzers have hypertrophic skeletal muscles, difficulty in rising after a period of rest, a stiff and stilted gait when walking, and a bunnyhop type movement when running. In addition, there are increased respiratory sounds, difficulty when swalling, ptyalism, dental abnormalities and superior prognathism.

Test specific information



The genetic factor is continuously present, and will always be visible.


Normally the result can be expected within 10 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.

Location of disease or trait

The disease is present in muscle. Depending on the effect, degeneration of muscle may take place. Alternatively, recovery following exercise may be deteriorated.

Breed dependence

This DNA test is available for the following breeds: Australian Cattle Dog. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Swab, Tissue. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.


An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.

An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.

An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.


This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).

Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.

Severity of Disease



Myotonia Congenita 2

Code H498
€ 47,80 (incl. 21% VAT)
€ 39,50 (excl. VAT)