A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles

Abstract

Objective: To report a dominant, slowly progressive early onset distal myopathy with sparing of the tibialis anterior. Methods: Twelve affected and two possibly affected members from an Australian kindred were examined and investigated by EMG, imaging studies, histopathology, and genetic analysis. Results: Affected patients had a slowly progressive condition with symmetric, distal weakness and wasting of the anterior upper and posterior lower limbs, with sparing of tibialis anterior, even in advanced disease. All patients remained ambulant and there was no evidence of cardiac or respiratory muscle involvement. Serum creatine kinase levels were either normal or mildly elevated. Imaging studie..