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Gangliosidosis is characterised by muscle tremors and loss of motor control. The first symptoms are observed at around 6-8 weeks of age and start with slight tremors that result in feeding difficulties and lack of coordination.

This test is also recommended for Bombay and Australian Mist as part of the breeding program established by the Flemish government (see official program).

GM2 gangliosidosis is an inherited disease caused by a deficiency of the enzyme β-hexosaminidase, leading to the accumulation of GM2 gangliosides in the nervous system.
In Korat cats, the first signs appear as early as 4 to 6 weeks of age with fine head tremors.
The disease progresses quickly with coordination problems, falls, and abnormal gait.
Affected kittens show severe deterioration over the following months.
Sadly, the outcome is fatal before 8 months of age.

 

Degenerative myelopathy is a neurodegenerative disease that progresses slowly and has a late onset (8 years or more). The initial clinical sign is characterised by hind limb ataxia. As the disease progresses, the frequently observed asymmetric weakness rises to affect the thoracic limbs, resulting in paraplegia. The majority of DM2/DM2 animals will not develop symptoms, however, elimination of these animals from breeding patterns reduces the genetic variability of the breed, which is why Progenus does not recommend this test.

Ichthyosis type 2 is a skin condition caused by keratin dysfunction. The skin of affected dogs is dry, thick, scaly with large skin scales. 

In addition to the genetic test available for this form, a specific test is also available for ichthyosis type 1.

Polyneuropathy type 1 (LNP21) is a progressive neuromuscular disease characterised by generalised weakness, hypotonia, laryngeal paralysis and muscle atrophy, particularly of the hind limbs. The age of onset of symptoms can vary between 1 and 11 years.

The locus E or extension refers to a mutation in the MC1R gene. Dogs with one or two dominant E alleles produce eumelanin (black pigment) while dogs with two copies of the e^1 allele will have a red or yellow coat. For dogs with at least one E allele, coat colour will be determined by other genes, including the A, B, D and K locus. Two other variants of this mutation were identified in 2018: the e^2 allele found in the Australian Cattle Dog (see DOG-LOCUS-E-CATTLEDOG) and the e^3 allele in the Husky (see DOG-LOCUS-E-HUSKY).

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.

Narcolepsy is a genetic disorder caused by a mutation in the orexin receptor. Affected dogs are sleepy and cannot stay awake for long periods. The first signs appear between 4 weeks and 6 months. Narcolepsy is not life-threatening.

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.

Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases that affect the central nervous system, leading to early neuronal death and progressive neurodegeneration. NCL2 specifically affects dachshunds, with symptoms including vision loss, tremors, and coordination problems starting at a young age. Unfortunately, there is no known cure for NCL2, and affected dogs typically do not survive past 12 months of age.