Search results for: 'DOG-PRA-PRCD'

Spongy degeneration with cerebellar ataxia 1 is a neurodegenerative disorder of the cerebellum. Affected puppies show ataxia with motor disorders, muscle spasms and loss of balance. Following the progression of symptoms, puppies are usually euthanised before 4 months of age.

Spongy degeneration with cerebellar ataxia 2 is a neurodegenerative disorder of the cerebellum. Affected puppies show ataxia with motor disorders, muscle spasms and loss of balance. Following the progression of symptoms, puppies are usually euthanised before 4 months of age.

L-2-hydroxyglutaric aciduria is a genetic disease of the nervous system. The clinical signs are high levels of L-2-hydroxyglutaric acid in urine and plasma, seizures, wobbly gait, ataxia, tremors and muscle stiffness and usually appear from 6 months of age.

Mucopolysaccharidosis VII is a lysosomal storage disease characterised by the accumulation of glycosaminoglycans in cells causing permanent cell damage. The first clinical signs are a shortened face, protruding ears and a broad chest. The condition progresses to corneal opacification, reduced growth, locomotor disorders, cardiac abnormalities and tracheal narrowing.

Neuronal ceroid lipofuscinosis is a genetic defect whose first clinical signs usually appear before the age of 2 years and include hypermetriosis, dysmetria, paraparesis, ataxia and progressive psychomotor degeneration. Unlike many other NCLs, American bulldogs with NCL10 do not show signs of brain dysfunction or blindness.

Phosphofructokinase deficiency is an inherited glycogen storage disease. Without the enzyme phosphofructokinase, muscle cells and red blood cells are not able to produce enough energy to meet their needs. Clinical signs are weakness, lethargy, exercise intolerance and anaemia.

Progressive retinal atrophy is characterised by the relatively early loss of cone photoreceptors while maintaining rod functionality. The first clinical signs appear around the age of 1 to 2 years, progressing to complete blindness.

Fucosidosis is a lysosomal storage disorder that causes the accumulation of proteins and lipids in organs and mainly in brain tissue, resulting in neurological symptoms. Affected animals show coordination and behavioural disorders, blindness and deafness. The first symptoms appear at around 18 months of age with a progression leading to the death of the animal.

Hereditary ataxia is a genetic disease causing a degeneration of the nerve cells. The symptoms of this pathology are progressive motor disorders leading to an inability to walk as well as a proprioceptive deficit of the hind limbs. The first clinical signs usually appear between 4 and 19 months of age.

Bilateral deafness and vestibular dysfunction is a genetic disease affecting the nervous system. The clinical signs of this pathology are deafness, head tilt, circular movements and lack of coordination of the limbs as well as abnormal eye movements. The first symptoms (deafness) usually appear at the age of 3 weeks.