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Bilateral hand amyotrophy with PMP-22 gene deletion

Authors


Dr P. Corcia, Department of Neurology and Clinical Neurophysiology, 2 bis boulevard Tonnellé, 37044 Tours Cedex, France (tel.: +33 247473724; fax: +33 247473808; e-mail: corcia@med.univ-tours.fr).

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) phenotypes are heterogeneous. We report the case of a 52-year-old woman without medical history, who complained of bilateral hand weakness suggestive first of a motor neuron disorder. The presence of a diffuse predominant distal demyelinating neuropathy suggested a deletion of PMP-22 gene, which was confirmed by genetic analysis. This case report underlines a novel phenotype related to the deletion of PMP-22 gene.

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