A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey

Abstract

A Turkish family living in northern Turkey with hereditary neuropathy is described herein. The current study presents two sisters with severe proximal and distal motor deficits, anatomic deformities, such as pes cavus and claw hand, dependent on wheelchairs, and born to parents with fifth degree consanguinity and who developed vocal cord paralysis in the follow-up. The genetic analysis revealed that the siblings were homozygous for p.Q38X (c.112C>T) mutation in the GDAP1 gene. There are rare reports of vocal cord paresis in patients with hereditary neuropathy that could result in respiratory difficulty in their clinical courses. The aim of the current study was to highlight the importance of genetic studies that would predict the development of vocal cord paralysis, which could reduce the expected life span in patients with hereditary neuropathy commonly encountered in the area due to consanguineous marriage.

Keywords

• Vocal cord paralysis
• hereditary neuropathy
• GDAP1 gene