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Feline hypertrophic cardiomyopathy (HCM) is characterised by left ventricular hypertrophy. Symptoms are variable from individual to individual and include heart failure, fatigability and in some cases death of the animal. The causative mutation is different between breeds. HCM3 is specific for the Ragdoll.

Narcolepsy is a genetic disorder caused by a mutation in the orexin receptor. Affected dogs are sleepy and cannot stay awake for long periods. The first signs appear between 4 weeks and 6 months. Narcolepsy is not life-threatening.

Von Willebrand disease is a condition that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein. 

Skeletal dysplasia type 3 is an inherited condition described notably in the Vizsla, associated with a variant in the PCYT1A gene. It primarily results in reduced shoulder height in homozygous dogs, with notable individual variability. The skeletal abnormalities mainly affect the limbs, with shortened, thickened, and deformed bones visible on imaging. Despite these structural changes, affected dogs do not consistently show obvious clinical signs in the short term. However, long-term monitoring is recommended to assess potential orthopedic consequences with age.

Von Willebrand disease is a condition that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein. 

Mucopolysaccharidosis VI is a lysosomal storage disease, the symptoms of which can appear as early as 6 weeks of age. These include facial dysmorphia, reduced flexibility, growth retardation, loss of mobility of posterior limbs, joint problems and corneal opacification.

Rod-cone dysplasia type 3 is one of the various forms of progressive retinal atrophy (PRA). This mutation leads to a progressive loss of night vision and subsequently daytime vision until total blindness.

Ichthyosis type 2 is a skin condition caused by keratin dysfunction. The skin of affected dogs is dry, thick, scaly with large skin scales. 

In addition to the genetic test available for this form, a specific test is also available for ichthyosis type 1.

Polyneuropathy type 1 (LNP21) is a progressive neuromuscular disease characterised by generalised weakness, hypotonia, laryngeal paralysis and muscle atrophy, particularly of the hind limbs. The age of onset of symptoms can vary between 1 and 11 years.

GM1 gangliosidosis is a fatal genetic disease caused by a deficiency of the enzyme β-galactosidase. This enzyme normally helps break down certain complex lipids called gangliosides, particularly GM1 ganglioside. In the absence of this enzyme, these compounds progressively accumulate within cells, especially in nervous tissue. The disease generally manifests around the age of 3 months and reaches its terminal stage at around 9 to 10 months, with the onset of blindness and epileptiform seizures. Affected animals exhibit an unsteady gait, loss of coordination, tremors, and progressive muscle weakness, leading to severe neurological decline.