Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)

Abstract

An elderly man in his early 80s presented with a 6-month history of worsening lower limb weakness on a background of a longer-standing waddling gait. Examination revealed bilateral scapular winging, and weakness in his proximal and distal lower limbs. Electromyography showed widespread chronic partial denervation changes, while sensory and motor nerve conduction parameters were preserved. After little progression over the course of 18 months, motor neuron disease was deemed less likely. Genetic testing revealed BICD2-related spinal muscular atrophy with lower extremity dominance (SMALED2), a disease that is usually of earlier onset. He is the oldest patient in the literature to be diagnosed with SMALED2 while maintaining ambulation, suggesting the milder spectrum of BICD2-related disease.