Polyglucosan body myopathy type 1

RBCK1 is a protein-coding gene. Diseases associated with RBCK1 include polyglucosan body type 1 myopathy with or without immunodeficiency and glycogen storage disease IV.

Polyglucosan bodies (PG) are non-specific complex polysaccharide molecules resistant to alpha-amylase enzyme digestion. PGs result from defective glycogen metabolism and they tend to accumulate within tissues.

Polyglucosan body myopathy is included into the conditions from altered processing of glycogen and accumulation of polyglucosan inside tissues. The disease affects children until then perfectly healthy, compromising their development and their possibility to live a good life. This diseases involves a course with a more and more debilitating symptomatology and a life expectancy that doesn’t reach adulthood. The first symptoms occur at a very early age with a muscular weakness of the lower extremities that compromises ambulation, and a progressive cardiomyopathy, generally dilated, that may require, in worst cases, heart transplant. Moreover, those symptoms can be associated with a hepatic involvement, delayed growth, immunodeficiency and spontaneous inflammations that occur with recurrent bacterial infections, included the possibility of cognitive impairments.

At present, there is no cure capable of contrasting the course of polyglucosan body myopathy. For that reason it’s crucial to finance the research to minimize the symptoms and increase the life expectancy of children affected by the disease. The process that leads to the development of an effective cure must, first of all, understand the biological mechanisms involved in the mutation of RBCK1 gene. Subsequently, it will be possible to identify and experiment therapies that can eliminate or minimize the damages caused by that alteration.