/polyglucosan body myopathy 1 with or without immunodeficiency

polyglucosan body myopathy 1 with or without immunodeficiency

Rare Disease

MONDO:0014389

Also Known As

PGBM1polyglucosan body myopathy 1 with or without immunodeficiencypolyglucosan body myopathy type 1polyglucosan body myopathy, early-onset, with or without immunodeficiency

Definition

A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.