Polyglucosan myopathy in Basset Hounds

Polyglucosan myopathy is a rare hereditary muscle disease described in Basset Hounds. It involves the accumulation of glycogen in muscle cells in the form of polyglucosan bodies, primarily affecting skeletal and cardiac muscles. Heart failure, weakness of the hind limbs, gastrointestinal problems, and sudden death have been reported in affected dogs. Pathologically, the disease is characterized by severe degeneration and necrosis of the myocardium.

In the Basset Hound breed, the disease is caused by a mutation c.1044+1G>T in the RBCK1 gene. The mutation is likely to be inherited in an autosomal recessive manner. This means that the disease only develops in individuals who inherit the mutated gene from both parents. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of mating two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% will be carriers, and 25% will inherit the mutated gene from both parents and will therefore be affected by the disease.

Genetic testing can clearly reveal an animal's genotype and is a useful tool for breeders to prevent the unintentional breeding of affected puppies.

.

Reference:

Blake, J.M., Miller, A.D., Marr, J.L., Ekenstedt, K.J. : Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. Mol Genet Metab 146:S1096-7192(25)00223-9:109232, 2025. Pubmed reference: 40939526