G.P.4.06 Dysferlinopathy with very late onset and untypical clinical presentation

Abstract

Mutations in the dysferlin gene cause LGMD2B, Miyoshi Myopathy and distal anterior compartment myopathy. The age of onset is generally in the late teens to mid-twenties. Although phenotypic heterogeneity is a common feature in this entity, patients with LGMD2B usually present with weakness in proximal muscle groups, whereas patients with Myioshi Myopathy and distal anterior compartment myopathy usually show distal weakness as the presenting symptom. Here we present a patient who showed first symptoms at the age of 73 years with gradual onset of stiffness affecting her trunk and lower limb girdle.