Niemann-Pick disease, type C1(NPC1)
Also known as: Niemann-Pick-Krankheit Typ C1 · NPC1 deficiency · Sphingomyelin-Lipidose · Niemann-Pick disease type C1 · Lysosomale Speichererkrankung Typ C1
Overview
What it is
Niemann-Pick disease type C1 is an inherited metabolic disorder where the body cannot properly process fats and cholesterol. This causes these fatty substances to build up inside cells, particularly within the brain and nervous system. Over time, this cellular accumulation leads to progressive and severe neurological damage.
How it presents
Symptoms typically become noticeable in early puppyhood, often starting with uncoordinated movement, tremors, and a loss of balance. Owners may also observe behavioral changes as the disease progresses.
Treatment
There is no cure for this disease, and treatment is limited to supportive care to keep the dog comfortable. Managing symptoms and diagnostic testing typically cost between 500 and 2000 EUR.
How it's tested
Niemann-Pick-Erkrankung Typ C1 DNA-Test(NPC1)
Primary testDNA testEin Gentest zum Nachweis der kausalen Mutation im NPC1-Gen, der betroffene Hunde sowie symptomfreie Träger dieser lysosomalen Speichererkrankung identifiziert.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Niemann-Pick disease, type C1?
Niemann-Pick disease type C1 is an inherited metabolic disorder where the body cannot properly process fats and cholesterol. This causes these fatty substances to build up inside cells, particularly within the brain and nervous system. Over time, this cellular accumulation leads to progressive and severe neurological damage.
How is Niemann-Pick disease, type C1 tested?
Tests currently in our database: Niemann-Pick-Erkrankung Typ C1 DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.