Disease overview

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.

Gene name

SMPD1 (associated with type A), NPC1 (associated with type C1), NPC2 (associated with type C2)

Inheritance

Autosomal recessive

Signs and symptoms

The common signs of Niemann-Pick disease are progressive ataxia, tremors, dysmetria, lesions in the neurologic tissue, and increased alkaline phosphatase on bloodwork.

How is it diagnosed

To diagnose Niemann-Pick disease, veterinarians must find a lack of enzyme function in tissues from the nervous system and other organs.

Breeds at higher risk

Current data does not indicate that specific breeds are at a higher risk.

Citations

https://pubmed.ncbi.nlm.nih.gov/12809639/ https://pubmed.ncbi.nlm.nih.gov/28233346/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.