Polyglucosan body myopathy, RBCK1-related(PBM)
Also known as: RBCK1-related polyglucosan body myopathy · Polyglucosan-Körper-Myopathie · RBCK1 myopathy · Polyglucosan storage disease
Overview
What it is
This is an inherited muscle disorder where abnormal sugar molecules, known as polyglucosan bodies, build up inside the dog's muscle cells. This accumulation causes progressive damage to the skeletal muscles and can also affect the heart muscle. The condition is linked to a genetic mutation in the RBCK1 gene, which was recently characterized in Basset Hounds.
How it presents
Affected dogs typically begin showing signs in young to middle age, presenting with progressive muscle weakness, stiffness, and muscle loss. Owners may also notice a reluctance to exercise and, as the disease advances, signs of heart dysfunction.
Treatment
There is no cure for this progressive condition, meaning treatment is limited to lifelong supportive care to manage symptoms. Managing this disease typically incurs ongoing veterinary costs ranging from 1,500 to 6,000 EUR.
How it's tested
Polyglucosan Body Myopathy (PBM) DNA-Test(PBM)
Primary testDNA testEin Gentest, der die ursächliche Mutation im RBCK1-Gen nachweist, um betroffene Hunde und Anlageträger der Polyglucosankörper-Myopathie zu identifizieren.
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 Polyglucosan body myopathy, RBCK1-related?
This is an inherited muscle disorder where abnormal sugar molecules, known as polyglucosan bodies, build up inside the dog's muscle cells. This accumulation causes progressive damage to the skeletal muscles and can also affect the heart muscle. The condition is linked to a genetic mutation in the RBCK1 gene, which was recently characterized in Basset Hounds.
How is Polyglucosan body myopathy, RBCK1-related tested?
Tests currently in our database: Polyglucosan Body Myopathy (PBM) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.