Health

Congenital myotonia is a heritable neuromuscular disorder characterized by a slow relaxation of skeletal muscles following voluntary contraction. Affected foals have difficulty moving due to stiffness.

Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. The condition often progresses to large patches of thickened, black, scaly skin. A recently identified allele is associated with congenital ichthyosis in the Labrador Retriever and is referred to as congenital ichthyosis type 3 (ICH3).

Rod-cone dysplasia type 2 (rcd2) is a type of early-onset retinal degeneration that affects collie breeds and typically lead to blindness.

Spinocerebellar ataxia (also known as cerebellar ataxia or CA) is an inherited disorder that affects the Spinone Italiano and is characterized by early onset of progressive incoordination (ataxia).

Primary open-angle glaucoma (POAG) is a type of glaucoma that typically progresses gradually without obvious signs of pain. A genetic inversion disrupting the ADAMTS17 gene is associated with POAG in the Petit Basset Griffon Vendeen, which is characterized by elevated intraocular pressure and lens subluxation, and can lead to vision loss at a later stage of the disease.

GM2 gangliosidosis is a fatal neurodegenerative lysosomal storage disease that affects dogs. This GM2 gangliosidosis allele has been identified in Toy Poodles.

Cerebellar Degeneration-Myositis Complex (CDMC) is a heritable disorder that causes neurological signs that manifest as early as 10 weeks of age in affected Nova Scotia Duck Tolling Retrievers.

Cardiac Laminopathy (CLAM) is a fatal heritable condition that results in dilated cardiomyopathy and sudden death in young adult Nova Scotia Duck Tolling Retrievers

Progressive retinal atrophy rod-cone degeneration 4 (rcd4-PRA) is a heritable condition characterized by late-onset degeneration of photoreceptor cells in the retina, leading to loss of vision and blindness.