Myotubular Myopathy(MTM-XL)
Also known as: X-linked Myotubular Myopathy · XLMTM · Myotubular Myopathy 1 · Centronuclear Myopathy X-linked · MTM1-related myopathy
Overview
What it is
This is a severe, inherited muscle disorder affecting the skeletal muscles, which control movement. It is caused by an X-linked genetic defect that prevents muscle fibers from developing and maturing properly. This lack of normal muscle structure leads to profound, generalized muscle weakness throughout the body.
How it presents
Symptoms typically appear within the first few weeks of a puppy's life and include severe muscle weakness, difficulty standing, and breathing struggles. These signs usually progress rapidly, making it difficult for the puppy to move or support its own weight.
Treatment
There is no cure for this condition, and management is limited to supportive or palliative care to maintain comfort. Providing this basic comfort care typically costs between 200 and 1000 EUR, though humane euthanasia is often elected due to the severity of the disease.
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 Myotubular Myopathy?
This is a severe, inherited muscle disorder affecting the skeletal muscles, which control movement. It is caused by an X-linked genetic defect that prevents muscle fibers from developing and maturing properly. This lack of normal muscle structure leads to profound, generalized muscle weakness throughout the body.
How is Myotubular Myopathy 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.