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, dependency on wheelchairs, who were born to parents with fifth-degree consanguinity, and 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, which may result in respiratory difficulty in the clinical course. The aim of the current study was to highlight the importance of genetic studies that predict the development of vocal cord paralysis, which could reduce the expected life span in patients with hereditary neuropathy, a condition commonly encountered in our region owing to consanguineous marriage.
Keywords: Vocal cord paralysis, hereditary neuropathy, GDAP1 geneTürkiye'nin kuzeyinde yaşayan herediter nöropatisi olan bir Türk aile tanımlanmıştır. Ciddi proksimal ve distal motor defisitleri olan, pes cavus ve pençe el gibi deformiteleri bulunan, tekerlekli sandalyeye bağımlı, takiplerinde vokal kord paralizisi gelişen, anne ve babaları beşinci dereceden akraba olan iki kız kardeş sunulmuştur. Kardeşlerin genetik analizlerinde GDAP1 geninde p.Q38X (c.112C>T) homozigot mutasyonu taşıdıkları gösterilmiştir. Herediter nöropatili hastaların klinik seyirlerinde solunum zorluğuna neden olabilecek vokal kord paralizisinin nadir de olsa geliştiğini bildirmiş yayınlar mevcuttur. Biz bu yazımızla bölgemizde akraba evliliklerinin yaygın olması nedeni ile sık gördüğümüz herediter nöropatili olgularda beklenen yaşam süresini kısaltabilecek vokal kord paralizisinin gelişebileceği hakkında önceden fikir verebilecek genetik çalışmaların önemini vurgulamak istedik.
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