Neuronal ceroid lipofuscinosis, 7(NCL7)
Also known as: Neuronal Ceroid Lipofuscinosis Type 7 · NCL 7 · MFSD8-related NCL · Neuronal Ceroid-Lipofuscinosis 7 · Ceroid-Lipofuszinose Typ 7 · …
Overview
What it is
Neuronal ceroid lipofuscinosis type 7 (NCL7) is an inherited metabolic disorder that affects the central nervous system. It occurs when a genetic mutation prevents cells from properly breaking down cellular waste, causing these waste products to build up and damage nerve cells in the brain. This buildup leads to the progressive loss of normal brain and nerve function.
How it presents
Owners typically first notice symptoms in early adulthood, starting with vision loss, anxiety, behavioral changes, and coordination issues. These neurological signs rapidly worsen over time, leading to severe mobility and cognitive decline.
Treatment
There is no cure for this fatal condition, and treatment is limited to supportive care to keep the dog comfortable. Managing symptoms and providing palliative care typically costs between 1,000 and 4,000 EUR.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
NCL7 DNA-Test(NCL7)
Primary testDNA testEin molekularbiologischer DNA-Test zum Nachweis der ursächlichen Mutation im MFSD8-Gen, die für die Neuronale Ceroid-Lipofuszinose Typ 7 verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
Result scheme: Clear/Carrier/Affected
Affected breeds
1 of 1 breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Neuronal ceroid lipofuscinosis, 7?
Neuronal ceroid lipofuscinosis type 7 (NCL7) is an inherited metabolic disorder that affects the central nervous system. It occurs when a genetic mutation prevents cells from properly breaking down cellular waste, causing these waste products to build up and damage nerve cells in the brain. This buildup leads to the progressive loss of normal brain and nerve function.
How is Neuronal ceroid lipofuscinosis, 7 tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), NCL7 DNA-Test, Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
Most commonly affected: Small Swiss Hound.