Lexicon

MYH1 Myopathy is an autoimmune disease where a horse can have an immune reaction against its own muscle cells.  There are two clinical presentations of MYHM: 

Immune-mediated myopathy (IMM) and non-exertional rhabdomyolysis.

The tested genetic mutation is a risk factor for these conditions. The disease is incomplete autosomal dominant and occurs in Quarter Horses and related breeds.

Naked Foal Syndrome (NFS) refers to lethal hairlessness in Akhal-Teke horses. Affected foals have almost no hair and usually die shortly after birth. The disease is inherited in an autosomal recessively.

Genetic Test: available in Shop

With narcolepsy (canarc-1), dogs suffer cataplectic episodes, a sudden onset of temporary flaccid paralysis of individual muscle groups or the entire skeletal musculature. Triggers are excitatory events or fright. Affected dogs also show unusual fatigue during the day.

This genetic variant of the disease occurs in the dachshund. The inheritance is autosomal recessive.

Genetic Test: available in Shop

With narcolepsy (canarc-1) dogs suffer cataplectic episodes, a sudden onset of temporary flaccid paralysis of individual muscle groups or the entire skeletal musculature. Triggers are excitatory events or fright. Affected dogs also show unusual fatigue during the day.

This genetic variant of the disease occurs in the Doberman. The inheritance is autosomal recessive.

Genetic Test: available in Shop

Also in the Doberman 1 package

With narcolepsy (canarc-1) dogs suffer cataplectic episodes, a sudden onset of temporary flaccid paralysis of individual muscle groups or the entire skeletal musculature. Triggers are excitatory events or fright. Affected dogs also show unusual fatigue during the day.

This genetic variant of the disease occurs in the Labrador Retriever. The inheritance is autosomal recessive.

Genetic Test: available in Shop

Also in the Labrador Retriever B package (DRC P3)

Neuronal ceroid lipofuscinosis 1 (NCL1) is a metabolism-induced neurodegenerative disease in Dachshunds caused by an alteration of a single base pair in exon 8 of the PPT1 gene. In this disease, a waste product of cell metabolism (ceroid lipofuscin, CL), is stored in the cells and is not metabolised further. CL accumulates in the nerve cells of the retina and brain. Affected animals therefore show symptoms such as visual disorders, balance disorders and later completely disoriented behaviour and physical degeneration.

The inheritance is autosomal recessive.

Genetic Test: available in Shop

Also in the Hereditary diseases Dachshund 1 package

Neuronal ceroid lipofuscinosis 2 (NCL2) is a metabolism-induced neurodegenerative disease caused by a deletion of a single base pair in exon 4 of the TPP1 gene. In this disease, the waste product of cell metabolism, ceroid lipofuscin, is stored in the cells and is not metabolised further. This accumulates in the nerve cells of the retina and brain. Affected animals therefore show symptoms such as visual disorders, balance disorders and later completely disoriented behaviour and physical degeneration.

The disease occurs in Dachshunds. The inheritance is autosomal recessive.

Genetic Test: available in Shop

Also in the Hereditary diseases Dachshund 1 package

Neuronal ceroid lipofuscinosis 5 (NCL5) is a metabolism-induced neurodegenerative disease caused by a deletion of two base pairs in exon 4 of the CLN5 gene. In this disease, the waste product of cell metabolism, ceroid lipofuscin, is stored in the cells and is not metabolised further. This accumulates in the nerve cells of the retina and brain. Affected animals therefore show symptoms such as visual disorders, balance disorders and later completely disoriented behaviour and physical degeneration.

The disease occurs in Golden Retrievers. The inheritance is autosomal recessive.

Genetic Test: available in Shop

Also in the Golden Retriever B package (DRC P4)

Oculoskeletal dysplasia 1 (OSD1) is caused by a lack or deficiency of collagen in the cartilage and ocular collagen, resulting in malformations (dysplasia) of both the skeleton and the eyes. Affected dogs show dwarfism due to short legs, especially the front legs. Retinal detachments and cataracts in the eye occur, resulting in blindness.

The disease occurs in the Labrador Retriever. It is inherited in an autosomal recessive manner.

Synonym: Retinal dysplasia (RD)

Genetic Test: available in Shop

With osteogenesis imperfecta (brittle bone disease - OI) a reduction and malformation in the synthesis of collagen occurs, which is a major component of bone. As a result, affected animals have brittle bones and teeth and unusually elastic joints.

The disease occurs in dachshunds and is caused by a mutation in the SERPINH1 gene. The inheritance is autosomal recessive.

Genetic Test: available in Shop