DISTAL MYOPATHIES: EP.75 Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement

Abstract

Hereditary distal motor neuropathies are a heterogeneous group of inherited neuromuscular disorders characterized by weakness mostly predominantly in lower limbs. We describe a family with two affected members, presenting a distal motor weakness. The propositus, a 33-year-old man, still fully ambulatory, presents with motor weakness and wasting of legs, forearms and hands. At the age of 10, the first symptoms encompass i.e., tiptoe walking, pes cavovarus and claw toes, which required multiple surgeries.