Congenital Myasthenic Syndrome (Old Danish Pointer Type) Overview
Congenital Myasthenic Syndrome (Old Danish Pointer Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene: Choline O-acetyltransferase (CHAT) on chromosome 28
Variant Detected: Base Substitution c.85G>A Val29Met
Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal Recessive
Test Overview: Affected dogs are able to run normally for 5–30 min after which they take shorter and shorter strides and eventually fall down with flexed fore- and hindlegs. After some minutes rest, they are able to walk and run again for variable periods of time before the signs reappear
Research Citation(s): Proschowsky HF, et al.Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. (2007), J of Hered, 98 (5): 539-543.
Associated Breed(s): Mixed Breed, Old Danish Pointing Dog,