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Niemann-Pick Disease - Sphingomyelinosis Overview

Niemann-Pick Disease - Sphingomyelinosis
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: NPC1

Variant Detected: Base Substitution G>C

Severity: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Is a lysosomal storage disorder analogous to human Niemann-Pick disease type C. The disease is characterised by neurological manifestations. The disease is rapidly progressive with tremors seen at 8-12 weeks of age. These tremors become more pronounced and lead to sever dysmetria and ataxia.

Research Citation(s): J Vet Intern Med. 1994 Mar-Apr;8(2):117-21
Mol Genet Metab. June 2003;79(2):99-103


Associated Breed(s): Persian ,  Siamese,