A rare clinical presentation of neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) accompanied with spinal cord atrophy: A case report

Abstract

Background: Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) is caused predominantly by m.8993T>G/C mutations in the mitochondrial adenosine triphosphate synthase subunit 6 gene (MT-ATP6). While absence of the signs of mitochondrial dysfunction in muscle fibers and presence of neurogenic changes due to neuropathy are well described as the characteristic features related to its weakness, spinal cord involvement has rarely been reported.