Myotonia Congenita (Miniature Schnauzer)

Body function:
Muscle & Neurological
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Myotonia congenita, also known as congenital myotonia, is an inherited muscle disorder identified in Miniature Schnauzers, resulting from a mutation in the CLCN1 gene. This condition causes the muscle cells to become overly excitable, leading to a persistent contraction of muscles rather than the normal relaxation that occurs after voluntary activity.
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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Miniature Schnauzer

A black and white dog with a happy expression is looking up at the camera with its mouth open. The dog's ears are perked up, and it appears to be excited.

What does this mean for a dog with this trait?

Management of myotonia congenita focuses on alleviating symptoms and ensuring the dog's comfort. Although there is no cure, regular exercise can help reduce muscle stiffness and improve mobility. It is also crucial to manage the dog's environment to prevent episodes from worsening, especially during cold weather or periods of excitement. Genetic testing can help identify carriers of the mutation and prevent the breeding of affected dogs.

Symptoms

Affected dogs typically show symptoms within a few weeks of age. These include a stiff and uncoordinated gait, often described as a "bunny hop," frequent falling, and muscle enlargement, particularly in the shoulders and thighs. Other signs include an abnormal posture, an upper jaw that appears longer than the lower jaw, difficulty swallowing, excessive panting and salivation, and an abnormal bark accompanied by loud, raspy breathing.

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