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Neuronal Ceroid Lipofuscinosis 6

Description

Neuronal Ceroid Lipofuscinosis 6 (NCL6) affects dogs and is a lysosomal storage disease. 
Dogs affected by this disease lack a specific enzyme necessary for normal metabolism. Due to this, there becomes an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. 
Affected dogs present with progressive neurologic disease at around 1.5 years of age. Symptoms can include loss of vision, behavioural change, anxiety, lack of muscle coordination and abnormal gait.
Affected dogs are usually humanely euthanised by 2 years of age due to progression of the disease.

Recommended Breeding

Diseases

Neuronal Ceroid Lipofuscinosis 6

$ 50.00

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Associated Breed(s):

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Labels:

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Gene:

CLN6

Variant Detected:

chr30:32247875 (canFam3): T>C

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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