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Myotonia Congenita (Labrador Retriever Type)

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Test Overview:

Myotonia Congenita (Labrador Retriever Type) affects dogs and is an inherited musculoskeletal disorder. Dogs affected with this disorder can present as early as 8 weeks of age with a stiff-legged gait. Increased respiratory sounds may also occur when the dog becomes excited, and dogs may have difficulty swallowing food and water. In later stages of disorder, affected dogs may collapse with a rigid body and extended limbs. Affected dogs can recover from the collapse quickly and may show gait improvements with prolonged activity. These signs are caused by abnormal electrolyte channels in the muscles. Dogs with a mild presentation may live a normal life, while more severe presentation may require medical treatment with varied success.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

CLCN1

Variant Detected:

chr16:6077509 (canFam4): T/A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the CLCN1 gene in dogs will reliably determine if it is a genetic carrier of Myotonia congenita (Labrador Retriever Type).

Research Citation(s):

Quitt PR, Hytonen MK, Matiasek K, Rosati M, Fischer A, Lohi H. Myotonia congenita in a Labrador Retriever with truncated CLCN1. Neuromuscul Disord. 2018 Jul;28(7):597-605. [PubMed: 29934119]

Associated Breed(s):

Australian Labradoodle , Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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