Muscular dystrophy-dystroglycanopathy, LARGE1-related(MDD)
Also known as: LARGE1-related muscular dystrophy · Muskeldystrophie-Dystroglykanopathie · Dystroglycanopathy · LARGE1 muscular dystrophy · Congenital muscular dystrophy · …
Overview
What it is
This is an inherited muscle disorder where a genetic defect in the LARGE1 gene disrupts the stability of muscle cell membranes. Without this protective support, the skeletal muscles undergo progressive and irreversible breakdown. This leads to a gradual loss of muscle function throughout the body.
How it presents
Symptoms typically become noticeable in early puppyhood and include pronounced muscle weakness, a stiff gait, and visible muscle wasting. Affected dogs will have increasing difficulty standing, walking, and eventually swallowing.
Treatment
There is no cure for this condition, and treatment is limited to palliative care to manage discomfort. Due to the severe and progressive nature of the disease, early euthanasia is typically required, with associated veterinary costs ranging from 250 to 1000 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
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 Muscular dystrophy-dystroglycanopathy, LARGE1-related?
This is an inherited muscle disorder where a genetic defect in the LARGE1 gene disrupts the stability of muscle cell membranes. Without this protective support, the skeletal muscles undergo progressive and irreversible breakdown. This leads to a gradual loss of muscle function throughout the body.
How is Muscular dystrophy-dystroglycanopathy, LARGE1-related tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.