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Myasthenic Syndrome, Congenital, CHAT-related

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed

General

Disease Name
Myasthenic Syndrome, Congenital, CHAT-related
Mutation
c.G>A
Mutation 2
p.V29M
Test Type
Genetic Disease/Disorder
Details
Congenital myasthenic syndrome, CHAT-related is one form of congenital myasthenic syndromes (CMS). CMS is an inherited neuromuscular transmission disorder. This form is characterised by an exercise-induced weakness of skeletal muscle. Dogs appear to run normally for 5 to 30 minutes before stride length becomes shorter and shorter, leading to collapse. The dog recovers after rest, exhibiting normal behaviour before the cycle repeats. Age of onset 12 to 16 weeks of age, but it can vary between breeds.
Details 2
The presence of a recessive inherited muscle disease in Old Danish Pointing Dogs has been well known for years. Comparisons of this disease with myasthenic diseases of other dog breeds and humans have pointed toward a defect in the synthesis of the neurotransmitter acetylcholine possibly due to decreased activity of the enzyme choline acetyltransferase. (From Proschowsky et al, 2007)
Published
Proschowsky, HF., Flagstad, A., Cirera, S., Joergensen, CB., Fredholm, M. : Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J Hered 98:539-43, 2007. Pubmed reference: 17586598. DOI: 10.1093/jhered/esm026.

Breed Specific Info

Researched Breeds
Old Danish Pointing Dog
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