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Polyneuropathy type 1 (LNP1) 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.

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.

Feline hypertrophic cardiomyopathy (HCM) is characterised by left ventricular hypertrophy. Symptoms are variable from individual to individual and include heart failure, fatigability and in some cases death of the animal. The causative mutation is different between breeds. HCM1 is specific for the Maine Coon.

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, leading to paraplegia.

Cystinuria is a disorder that interferes with the proper reabsorption of cystine (an amino acid) in the kidneys leading to the formation of cystine crystals in the urine. Affected dogs have cystine crystals in the kidneys and/or bladder. 

Von Willebrand disease is a disease that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein. This disease is inherited as a dominant trait with incomplete penetrance, which means that not all dogs carrying the vWF mutation will show clinical signs of the disease.

GM1 gangliosidosis is a fatal genetic disease caused by a deficiency of the enzyme β-galactosidase. This enzyme normally helps break down certain complex lipids called gangliosides, particularly GM1 ganglioside. In the absence of this enzyme, these compounds progressively accumulate within cells, especially in nervous tissue. The disease generally manifests around the age of 3 months and reaches its terminal stage at around 9 to 10 months, with the onset of blindness and epileptiform seizures. Affected animals exhibit an unsteady gait, loss of coordination, tremors, and progressive muscle weakness, leading to severe neurological decline.

Spongy degeneration with cerebellar ataxia 1 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.

Progressive retinal atrophy is an inherited eye disease characterised by bilateral degeneration of the photoreceptor cells of the retina resulting in progressive vision loss leading to total blindness. Other mutations can cause progressive retinal atrophy. PRA1 accounts for more than 60% of diagnosed Golden Retrievers.

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.