GNE myopathy: Prospective clinical study of the progression of muscle weakness and serum creatine kinase levels
Keywords:
GNE myopathyAbstract
GNE myopathy is a hereditary neuromuscular disorder leading to progressive muscle weakness predominantly in the distal muscles of the lower limbs and later in the course of the disease affects the proximal and distal muscles of the upper and lower limbs. Variety of mutations in the GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase) gene are responsible for the condition. Different mutations lead to some differences in the phenotype. A founder homozygous mutation p.I618T was described in the Bulgarian Roma population. In this study we describe the progression in the motor dysfunction and the serum levels of creatine kinase in 43 patients. The results show a slow rate of progression of the muscle weakness and relatively preserved motor functions in the first decade of the disease. Pharyngeal and oculomotor muscles are preserved. Serum creatine kinase levels can be used as a biomarker of the progression rate.
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Copyright (c) 2021 Kristina Kastreva, T. Chamova, K. Chobanov, T. Dimitrova, I. Tournev
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