Search results for: 'DOG-PRA-PRCD'

Neurons are covered by a myelin sheath, in dogs with hypomyelination, the thickness of this sheath is reduced. The first symptoms are observed from the age of 1 to 2 weeks and include tremors and balance disorders. In most cases, the symptoms resolve after 3-4 months of age.

Multifocal retinopathy is an eye disease with symptoms appearing between 11 and 16 weeks of age. Affected dogs have multiple circular areas of retinal detachment. Fluid accumulates under the detached retina, resulting in blistering of the eye. The disease progresses slowly and does not usually lead to blindness.

Spastic ataxia is a neurological disease described in the Great Pyrenees. It is characterized by degeneration of the central nervous system associated with peripheral nerve involvement. Clinical signs often begin as early as 4 months of age. Affected dogs show loss of coordination (ataxia) and progressive muscle stiffness. The condition progresses slowly over several years.

Ichthyosis, also known as autosomal recessive congenital ichthyosis (ARCI), is a non-inflammatory skin disease characterised by flaky or scaly skin. Clinical signs appear in puppies as early as 1 to 2 weeks of age. Affected dogs have a sticky, oily, yellowish substance around the eyes and ears. In severe cases, puppies are usually euthanised.

Glycogen storage disease is a severe genetic disorder of glycogen metabolism, causing glycogen accumulation mainly in the liver. Affected dogs show severe hepatomegaly, fasting hypoglycemia, failure to thrive, and may progress to coma and death.
The G6PC gene mutation strongly reduces enzyme activity, disrupting the production of glucose from glucose-6-phosphate.
Histologically, the liver shows vacuolated hepatocytes filled with glycogen.

The locus D or dilution refers to a mutation in the MLPH gene that causes a diluted coat colour. This mutation dilutes black to blue, chocolate to lilac and yellow to champagne. The mutation tested is the d^1 mutation. For the breeds Chow Chow, Sloughi and Thai Ridgeback, the test to be performed is the DOG-LOCUS-D-CHOW test.

Musladin-Lueke syndrome, also known as canine geleophysic dysplasia, is an inherited disorder described in Beagles and associated with the ADAMTSL2:c.661C>T variant. Affected dogs typically exhibit growth retardation, thick and taut skin, and severely restricted joint mobility. A broad skull, wide-set slanted eyes, creased ears, and a characteristic tip-toe gait may also be observed.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Primary ciliary dyskinesia is an inherited disorder described in Alaskan Malamutes. It disrupts the function of motile cilia, which are essential for the natural clearance of the airways. Affected dogs mainly show chronic respiratory problems, including nasal discharge, productive cough, bronchial infections and long-term bronchial damage. This form may also be associated with hydrocephalus, reported in one affected case.