Congenital Myasthenic Syndrome (Old Danish Pointer Type)

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

Choline O-acetyltransferase (CHAT) on chromosome 28

Variant Detected:

chr28:1484906 (canFam3): G>A

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Flagstad A, Trojaborg W, Gammeltoft S. Congenital myasthenic syndrome in the dog breed Gammel Dansk Hønsehund: clinical, electrophysiological, pharmacological and immunological comparison with acquired myasthenia gravis. Acta Vet Scand. 1989;30(1):89-102. [PubMed: 2782236] Flagstad, A. A new hereditary neuromuscular disease in the dog breed "Gammel Dansk Honsehund". Genetic investigations. Hereditas. 1982; 96:211-4. [PubMed: 7201985] 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. 2007; 98(5):539-43. [PubMed: 17586598]

Associated Breed(s):

Mixed Breed, Old Danish Pointing Dog,