Paradoxical Pseudomyotonia (PPM)
Kodas: H984
Short description
Paradoxical Pseudomyotonia (PPM) is a hereditary muscular disease that causes general muscle stiffness after exercise.
General information
Paradoxical Pseudomyotonia (PPM) is a hereditary muscular disease that causes general muscle stiffness after exercise. The disorder is found in the English Cocker Spaniel and English Springer Spaniel, and is caused by a recessive mutation to the gene SLC7A10.
Specifications
| Breeds | |
|---|---|
| Gene | SLC7A10 |
| Chromosome | 1 |
| Mutation | c.126C>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected dogs present within the first two years of age (generally at approximately 6 months) with episodes of exercise-caused myotonia. These episodes result in generalized muscle stiffness and may cause affected dogs to walk strangely (described sometimes as “running in a computer game”), or get stuck while climbing stairs or jumping. In more severe cases, the dog may collapse and have difficulty breathing. Episodes typically last for several seconds to under one minute, and resolve with rest. They are caused by strenuous exercise, and may be worsened by stress, excitement, and particularly high or low temperatures.
References
Pubmed ID: 36869603
Year published: 2023
Omia ID: 2645
Omia variant ID:
Turnaround information
- 10 working days