Congenital myotonia ""in New Forest Pony

Congenital myotonia

Disease

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.

Breed

New Forest Pony

Trait of inheritance

autosomal-recessive

Test duration

3-5 days after arrival of the sample in the lab

Material

The DNA test is performed out of EDTA blood or or 20-30 hair roots from mane or tail. Test kits can be ordered free of charge. (order-form). If hair is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.

Testing procedure

Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer.
Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.

Questiones?

Please contact our molecular biology team for further questions.

LABOKLIN GmbH und Co.KG
Steubenstraße 4
D-97688 Bad Kissingen

Telefon: +49 (0)971 72020
Fax: +49 (0)971 68546
E-Mail: info@labogen.com

Links

 back to genetic diseases

 back to list for breed


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