Polyglucosan body myopathy type 2

Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by Malfatti et al., 2014). For a discussion of genetic heterogeneity of PGBM, see PGBM1 (615895).

OMIM