Search results for: 'DOG-PRA-PRCD'

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.

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.

Congenital deafness in Rottweilers is a genetic disorder causing bilateral hearing loss from the first weeks of life. Affected puppies show profound deafness, without other apparent clinical signs.

This condition is associated with a mutation in the LOXHD1 gene, which plays a key role in the function of the cochlear hair cells.

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.

Locus I determines a dilution of the pheomelanin pigments (red or yellow pigment), resulting in a dilution of the fawn coat to cream, sand or white depending on the breed. The mutation does not affect the eumelanin pigments and therefore has no impact on the black or brown coat.

Neonatal encephalopathy is a malformation of the cerebellum seen in poodles. Affected puppies are small at birth and do not develop normally. At the age of about 3 weeks, weakness, ataxia, tremors are observed. Affected puppies do not interact with the mother or other members of the litter and react slowly to external stimuli. They usually die or are euthanised before 7 weeks of age.

X-linked hypohidrotic ectodermal dysplasia is a disease characterised by missing or malformed teeth and absent sweat glands. The disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Neuronal ceroid lipofuscinosis is a genetic disease with symptoms including behavioural changes, cognitive decline, cerebellar ataxia, dementia, seizures, nervousness, aggression, hypersensitivity to stimuli, loss of coordination, tremors, retinal degeneration, moderate visual impairment in low light, but good visual acuity in bright light. The first behavioural signs usually appear around the age of 4 to 6 years.