Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis

Practical Neurology
Gillian IngramHuw R Morris

Abstract

Patients presenting with distal weakness can be a diagnostic challenge; the eventual diagnosis often depends upon accurate clinical phenotyping. We present a mother and daughter with a rare form of distal hereditary motor neuropathy type 7 in whom the diagnosis became apparent by initial difficulty in singing, from early vocal cord dysfunction. This rare neuropathy has now been identified in two apparently unrelated families in Wales. This family's clinical presentation is typical of distal hereditary motor neuropathy type 7, and they have the common truncating mutation in the SLC5A7 gene. Advances in genetic analysis of these rare conditions broaden our understanding of their potential molecular mechanisms and may allow more directed therapy.

References

Apr 11, 2001·American Journal of Human Genetics·M McEntagartN Rahman
Jan 26, 2005·Annals of Neurology·Meriel E McEntagartNazneen Rahman
Dec 29, 2009·Nature Genetics·Michaela Auer-GrumbachChristian Guelly
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Apr 23, 2015·Practical Neurology·Alexander M RossorMary M Reilly

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Citations

Mar 27, 2016·Practical Neurology·Mary M Reilly
Aug 30, 2016·American Journal of Human Genetics·Stéphanie BauchéSophie Nicole
Oct 18, 2018·Current Neurology and Neuroscience Reports·Rocio Garcia-SantibanezRobert C Bucelli
Jul 5, 2019·The International Journal of Neuroscience·Gaurava Srivastava, Preeti Srivastava
Nov 20, 2020·Brain : a Journal of Neurology·Danique Beijer, Jonathan Baets

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