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Published on: January 7, 2019
[Severe form of hereditary neuralgic amyotrophy without SEPT9 gene mutation]
A Cosson1, A Mathieu, P Sevrin
1Service d'explorations et pathologies neuromusculaires, hôpital Jean-Minjoz, CHU, 3, boulevard Fleming, 25030 Besançon cedex, France. acosson@chu-besancon.fr
Introduction:
Hereditary neuralgic amyotrophy (HNA) is a rare condition characterized by recurrent episodes of painful paralysis preferentially affecting the brachial plexus. It is often linked to a mutation in the SEPT9 gene.
Case Report:
A 69-year-old female patient experienced a dozen episodes of severe neurological deficit mainly affecting the brachial plexus and the phrenic and recurrent nerves. The diagnosis of HNA without SEPT9 gene mutation was retained.
Discussion:
HNA can have significant sequelae. A genetic heterogeneity exists and mutations in the SEPT9 gene may not be found. Immunomodulatory and corticosteroid treatments have sometimes proved to be effective.
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