Gangliosidosis, GM2, type I (B variant)(GM2)
Also known as: GM2 Gangliosidosis · Tay-Sachs Disease · GM2 Gangliosidosis Type I · Beta-Hexosaminidase A Deficiency · GM2-Gangliosidose Typ I · …
Overview
What it is
This is an inherited metabolic disorder where a deficiency in the enzyme beta-hexosaminidase A causes harmful fatty substances to build up in the central nervous system. This buildup leads to progressive and irreversible damage to the brain and spinal cord cells. Because the cells cannot properly break down these waste products, the nervous system gradually stops functioning.
How it presents
Symptoms typically appear within the first few months of life and progress rapidly. Owners will first notice neurological signs such as body tremors, difficulty coordinating movements, and a gradual loss of vision.
Treatment
There is no cure for this condition, and treatment is limited to supportive and palliative care to keep the dog comfortable. Managing the symptoms and diagnostic testing typically costs between 500 and 2000 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
GM2-Gangliosidose (Typ I) DNA-Test(GM2)
Primary testDNA testEin DNA-Test, der die spezifische Mutation im HEXA-Gen nachweist, welche zum Mangel des Enzyms Beta-Hexosaminidase A führt.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
GM2-Gangliosidose DNA-Test(GM2)
Primary testDNA testDer DNA-Test identifiziert die spezifische Mutation im HEXA- oder HEXB-Gen, welche die GM2-Gangliosidose verursacht, und ermöglicht den Nachweis von betroffenen Tieren und klinisch gesunden Anlageträgern.
Issuing body: other
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
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Gangliosidosis, GM2, type I (B variant)?
This is an inherited metabolic disorder where a deficiency in the enzyme beta-hexosaminidase A causes harmful fatty substances to build up in the central nervous system. This buildup leads to progressive and irreversible damage to the brain and spinal cord cells. Because the cells cannot properly break down these waste products, the nervous system gradually stops functioning.
How is Gangliosidosis, GM2, type I (B variant) tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), GM2-Gangliosidose (Typ I) DNA-Test, GM2-Gangliosidose DNA-Test, Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
Most commonly affected: Japanese Chin.