Myopathy, creatine deficiency disorder, GATM-related
Also known as: GATM myopathy · Creatine deficiency syndrome · GATM-related myopathy · Glycine amidinotransferase deficiency · Creatine deficiency disorder GATM-related
Overview
What it is
This genetic condition affects the muscular system by disrupting the body's ability to produce creatine, a compound essential for supplying energy to muscle cells. Due to a defect in the GATM gene, the muscles cannot generate enough energy to function properly, leading to cellular starvation. This lack of energy causes progressive muscle damage and weakness over time.
How it presents
Owners typically notice signs during puppyhood or in young dogs, including progressive muscle weakness, muscle wasting, and tiring very quickly during normal activity.
Treatment
While the condition cannot be cured, it can be managed with lifelong creatine supplementation and regular veterinary monitoring. This ongoing care and diagnostic testing typically cost between 1,500 and 6,000 EUR.
How it's tested
GATM-Myopathie DNA-Test(GATM)
Primary testDNA testDieser Gentest identifiziert die Mutation im GATM-Gen, welche für den gestörten Kreatinstoffwechsel und die daraus resultierende Myopathie verantwortlich ist.
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 Myopathy, creatine deficiency disorder, GATM-related?
This genetic condition affects the muscular system by disrupting the body's ability to produce creatine, a compound essential for supplying energy to muscle cells. Due to a defect in the GATM gene, the muscles cannot generate enough energy to function properly, leading to cellular starvation. This lack of energy causes progressive muscle damage and weakness over time.
How is Myopathy, creatine deficiency disorder, GATM-related tested?
Tests currently in our database: GATM-Myopathie DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.