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Paradoxical pseudomyotonia (PP)
| Acronym: | PP |
| Gene: | SLC7A10 |
| Mutation: | c.126C>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Paradoxical pseudomyotonia is a genetic disorder observed in English Springer Spaniels (ESS) and Cocker Spaniels (ECS), characterized by exercise-induced muscle stiffness resembling myotonia. Myotonia refers to the delayed relaxation of muscles after contraction, causing affected dogs to experience prolonged muscle stiffness, particularly after physical activity. This condition can result in difficulty walking, an abnormal gait, and stiffness that worsens with exertion but improves with rest. The underlying cause of paradoxical pseudomyotonia in these breeds has been linked to a specific genetic mutation - a nonsense variant in the SLC7A10 gene. This mutation leads to a premature stop codon in the SLC7A10 gene, disrupting the function of a key protein involved in amino acid transport, which is critical for normal muscle function.
Paradoxical pseudomyotonia is inherited as an autosomal recessive trait, meaning that two copies of the mutated gene are required for a dog to manifest the disease. Dogs with only one copy of the mutation will be carriers, showing no symptoms but capable of passing the variant to their offspring. Genetic testing can identify carriers and affected dogs, which is important for breeders to avoid mating pairs that could produce puppies with the disorder.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
References:
Van Poucke M, Stee K, Lowrie M, Peelman L. The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels. Anim Genet. 2023 Aug;54(4):483-490. doi: 10.1111/age.13312. Epub 2023 Mar 3. PMID: 36869603.