Congenital Myasthenic Syndrome (Jack Russell Terrier Type) Overview
Congenital Myasthenic Syndrome (Jack Russell Terrier Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene: Cholinergic receptor nicotinic epsilon subunit (CHRNE) on chromosome 5
Variant Detected: Nucleotide Insertion c.1144insC p.Gly212Argfs*274
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Test Overview: Characteristics of congenital myasthenic syndrome Labrador retriever type are fatigable weakness of skeletal muscle. The weakness is a result of a defect in the synthesis of the neurotransmitter acetylcholine. Affected dogs are able to run normally for 5 to 30 minutes. Shortly after, dog’s strides become shorter and shorter, eventually resulting in a collapse. The dog recovers after some minutes of rest, and is able to walk or run for a certain period of time, before the symptoms’s reappearance. The first symptoms usually occur between 12 to 16 weeks of age, but it can vary between breeds. Congenital myasthenic syndrome symptoms appear similar to myasthenia gravis. But while myasthenia gravis is an autoimmune, CMS is an inherited disease caused by gene mutation.
Research Citation(s): Rinz CJ, et al. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. (2015) Neuromuscul Disord. 25(12):921-7
Associated Breed(s): Jack Russell Terrier, Mixed Breed, Australian Terrier, Parson Russell Terrier,