Autoszomális recesszív
Caused by changes in both copies of GYG1, which encodes glycogenin-1, the protein that starts glycogen formation. Abnormal glycogen (polyglucosan) accumulates in muscle fibres.
Tünetek és jelek
Progressive weakness of the hip and shoulder muscles, or sometimes of the hands and lower legs, starting in adulthood, is typical. Muscle biopsy shows polyglucosan deposits. The heart muscle can also be affected, causing cardiomyopathy.
Mit változtat a diagnózis
Physiotherapy and mobility support, with heart assessment because some people develop cardiomyopathy. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
GYG1 polyglucosan body myopathy; PGBM2; polyglucosan body myopathy 2; polyglucosan body myopathy caused by mutation in GYG1
