Polyglucosan Body Myopathy 1 With or Without Immunodeficiency
Autoszomális recesszív
This condition is caused by changes in both copies of RBCK1, which makes HOIL-1, part of a protein complex that regulates inflammation and immune signalling. Loss of HOIL-1 leads to build-up of abnormal glycogen (polyglucosan) in muscle cells.
Tünetek és jelek
Progressive weakness of the limb muscles and heart muscle disease, which can lead to heart failure, are the main features. Some people also have recurrent infections and episodes of inflammation. Muscle biopsy shows polyglucosan deposits.
Mit változtat a diagnózis
Regular heart monitoring with heart failure treatment is important. Physiotherapy supports mobility, and immunology input is needed when infections or inflammation occur. Genetic counselling is recommended; parents are usually carriers, each future child has a risk of being affected, and carrier testing can be offered to relatives.
Vizsgált gének
Más néven
PGBM1; polyglucosan body myopathy type 1; polyglucosan body myopathy, early-onset, with or without immunodeficiency
