Niemann-Pick disease is a group of hereditary lysosomal storage disorders that result in the accumulation of sphingomyelin and cholesterol in cells of the nervous system and other organs. This disease is hereditary, with an autosomal recessive pattern.
SMPD1 (associated with type A), NPC1 (associated with type C1), NPC2 (associated with type C2)
Autosomal recessive
The common signs of Niemann-Pick disease are progressive ataxia, tremors, dysmetria, lesions in the neurologic tissue, and increased alkaline phosphatase on bloodwork.
To diagnose Niemann-Pick disease, veterinarians must find a lack of enzyme function in tissues from the nervous system and other organs.
Current data does not indicate that specific breeds are at a higher risk.
https://pubmed.ncbi.nlm.nih.gov/12809639/ https://pubmed.ncbi.nlm.nih.gov/28233346/
Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.
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