Genetic testing is an effective tool for preventing genetic diseases in many dog breeds. Genetic testing can also be used for known diseases and traits in the English Bulldog breed. Testing is recommended for male and female dogs prior to planned mating. In the next section of this article you will find a description of the most common genetic diseases in the English Bulldog that are included in our package.
Malignant hyperthermia (MH) – The disease is caused by a congenital skeletal muscle disorder where there can be a significant increase in temperature (hyperthermia) up to 45°C, rapid and irregular heartbeat (tachycardia and arrhythmias), rapid breathing, muscle stiffness and can end in renal failure and death. The administration of certain volatile anaesthetics may also be a trigger in genetically predisposed individuals. Inheritance is autosomal dominant.
Degenerative myelopathy (DM) – This neuromuscular disease causes a gradual loss of muscle mass in the hind limbs and back, which is manifested by poor coordination of movements, constricted and asymmetrical gait, or incontinence. The disease affects a wide range of dog breeds (more than 100 dog breeds have been described) and manifests itself in middle to older age. Unfortunately, the disease is incurable and progressively worsens, with death usually occurring after 3-5 years from the first manifestation of the disease due to general weakness and paralysis of the respiratory muscles.
Hyperuricosuria (HUU) – Hyperuricosuria is a disease that manifests itself in dogs with excessively high levels of uric acid in the urine. Uric acid is a by-product of the metabolism of purines that are found in the diet. In the normal state, uric acid is dissolved in the urine and excreted from the body in the urine. In dogs with hyperuricosuria, this process is disturbed, leading to its accumulation in the urine and the eventual formation of urinary stones. Hyperuricosuria in dogs is often genetic in nature, which may increase an individual’s susceptibility to the disease, especially if exposure to purines in the diet is high. The disease affects a wide range of dog breeds (e.g. Dalmatian, Bulldog, Weimaraner, German Shepherd, American Staffordshire Terrier and others). Inheritance is autosomal recessive.
Cystinuria (CYST) – Cystinuria is a rare genetic disease that affects, among others, English bulldogs. This disease is characterized by impaired absorption and subsequent excretion of the amino acid cystine in the urine, which can lead to the formation of cystine stones in the urinary tract. Clinical manifestations include difficulty urinating, frequent urinary tract infections, pain on urination, presence of blood in the urine, or recurrent kidney and bladder problems. The disease often manifests itself at a young age, usually by the age of two or three years. Both sexes can be affected, but the incidence is higher in males. Inheritance is autosomal recessive. Based on the new scientific studies, it is recommended to test only two known mutations in the SLC3A1 gene in English bulldogs (see references below).
Multifocal retinopathy type 1 (CMR1) – Multifocal retinopathy type 1 is a genetic eye disorder that manifests as degeneration of the retina, which can lead to progressive loss of vision up to complete blindness. This disease occurs in a variety of dog breeds, but is particularly seen in the English Bulldog. The development of the disease is very rapid, often appearing before the fourth month of age. The first manifestations are usually in the form of lesions under the retina, similar to vesicles. Despite gradual damage to the retina, complete loss of vision usually occurs only at an older age. Inheritance is autosomal recessive.
Short Tail (DVL2) – The short tail mutation, also known as the DVL2 mutation, is a genetic anomaly that affects the tail morphology of the English Bulldog breed. This mutation is associated with the presence or absence of a short tail. This mutation results in abnormal vertebral shapes and adhesions, which in turn leads to a deformed tail and a shortening of the tail by 8 to 15 vertebrae. This trait is characteristic of certain breeds (English Bulldog, French Bulldog, Boston Terrier). In other breeds it is undesirable and is associated with other health problems. Inheritance is autosomal recessive.
Reference: Fitzwilliams, T., Wolff‐Sneedorff, J. L., Fredholm, M., Karlskov‐Mortensen, P., Guldbrandtsen, B., & Bruun, C. S. (2023). Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs. Animal Genetics, 54(4), 566-569.
