polyglucosan body myopathy 1 with or without immunodeficiency
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.
MONDO:0016334
obsolete neuromuscular disease with dilated cardiomyopathy (obsolete MONDO:0016334)
excluded_subClassOf
MONDO:0019058
obsolete neurometabolic disease (obsolete MONDO:0019058)
excluded_subClassOf
MONDO:0000192
polyglucosan body myopathy
is_a
MONDO:0002412
disorder of glycogen metabolism
is_a
PGBM1
exact
polyglucosan body myopathy 1 with or without immunodeficiency
exact
polyglucosan body myopathy type 1
exact
polyglucosan body myopathy, early-onset, with or without immunodeficiency
exact