Asymmetric Distal-Onset GNE Myopathy Mimicking Peripheral Neuropathy: A Case Report

Figures

• 

  Fig. 1.. Clinical photographs showing distal-predominant muscle involvement. a Supine view of the lower limbs showing distal leg involvement with relatively preserved thigh muscles. b Posterior standing view demonstrating calf muscle wasting, more pronounced on the left, indicated by arrows. c Palmar view of both hands showing distal hand muscle involvement. d Dorsal view of both hands showing bilateral first dorsal interosseous muscle wasting, more pronounced on the left, indicated by arrows.

• 

  Fig. 2.. Representative needle electromyography findings demonstrating a distal-predominant myopathic pattern. a–c Myopathic motor unit action potentials are seen in the tibialis anterior, peroneus longus, and gastrocnemius medial head, characterized by low-amplitude, short-duration, polyphasic units. d The quadriceps shows relatively preserved motor unit morphology, supporting relative proximal lower-limb sparing. e The abductor digiti minimi shows myopathic motor unit action potentials, indicating distal upper-limb involvement. f The biceps brachii shows relatively preserved motor unit morphology, supporting relative proximal upper-limb sparing. g Tibialis anterior recording demonstrates early recruitment with a full interference pattern, further supporting a myopathic pattern. Calibration: sweep speed 10 ms/div and sensitivity 200 µV/div for motor unit potential recordings; sweep speed 0.1 s/div and sensitivity 1 mV/div for the recruitment/interference recording.