- -

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

RiuNet: Institutional repository of the Polithecnic University of Valencia

Share/Send to

Cited by

Statistics

  • Estadisticas de Uso

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

Show simple item record

Files in this item

dc.contributor.author Sevilla, Teresa es_ES
dc.contributor.author Jaijo, Teresa es_ES
dc.contributor.author Nauffal, Dolores es_ES
dc.contributor.author Collado, Diego es_ES
dc.contributor.author Chumillas, María José es_ES
dc.contributor.author Vilchez, Juan J. es_ES
dc.contributor.author Muelas, Nuria es_ES
dc.contributor.author Bataller, Luis es_ES
dc.contributor.author Domènech, Rosalia es_ES
dc.contributor.author Espinós-Armero, Carmen Ángeles es_ES
dc.contributor.author Palau, Francesc es_ES
dc.date.accessioned 2023-12-28T19:02:21Z
dc.date.available 2023-12-28T19:02:21Z
dc.date.issued 2008-11 es_ES
dc.identifier.uri http://hdl.handle.net/10251/201214
dc.description.abstract [EN] Cranial nerve involvement in Charcot-Marie-Tooth disease (CMT) is rare, though there are a number of CMT syndromes in which vocal cord paralysis is a characteristic feature. CMT disease due to mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) has been reported to be associated with vocal cord and diaphragmatic palsy. In order to address the prevalence of these complications in patients with GDAP1 mutations we evaluated vocal cord and respiratory function in nine patients from eight unrelated families with this disorder. Hoarseness of the voice and inability to speak loudly were reported by eight patients and one had associated symptoms of respiratory insufficiency. Patients were investigated by means of peripheral and phrenic nerve conduction studies, flexible laryngoscopy, pulmonary function studies and polysomnography. Nerve conduction velocities and pathological studies were compatible with axonal CMT (CMT2). Flexible laryngoscopy showed left vocal cord palsy in four cases, bilateral cord palsies in four cases and was normal in one case. Restrictive respiratory dysfunction was seen in the eight patients with vocal cord paresis who were all chair-bound. These eight had confirmed phrenic nerve dysfunction on neurophysiology evaluation. The patient with normal vocal cord and pulmonary function had a less severe clinical course.This study shows that CMT patients with GDAP1 mutations develop severe disability due to weakness of limb muscles and that laryngeal and respiratory muscle involvement occurs late in the disease process when significant proximal upper limb weakness has developed. The early and predominant involvement of the left vocal cord innervated by the longer left recurrent laryngeal nerve suggests a length dependent pattern of nerve degeneration. In GDAP1 neuropathy, respiratory function should be thoroughly investigated because life expectancy can be compromised due to respiratory failure. es_ES
dc.description.sponsorship Fondo de Investigacion Sanitaria (PI/05/1572); CIBERNED; CIBERER; Instituto de Salud Carlos III. es_ES
dc.language Inglés es_ES
dc.publisher Oxford University Press es_ES
dc.relation.ispartof Brain es_ES
dc.rights Reserva de todos los derechos es_ES
dc.subject.classification BIOLOGIA CELULAR es_ES
dc.title Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy es_ES
dc.type Artículo es_ES
dc.identifier.doi 10.1093/brain/awn228 es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//FIS PI05%2F1572/ es_ES
dc.rights.accessRights Abierto es_ES
dc.contributor.affiliation Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural es_ES
dc.description.bibliographicCitation Sevilla, T.; Jaijo, T.; Nauffal, D.; Collado, D.; Chumillas, MJ.; Vilchez, JJ.; Muelas, N.... (2008). Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain. 131:3051-3061. https://doi.org/10.1093/brain/awn228 es_ES
dc.description.accrualMethod S es_ES
dc.relation.publisherversion https://doi.org/10.1093/brain/awn228 es_ES
dc.description.upvformatpinicio 3051 es_ES
dc.description.upvformatpfin 3061 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.description.volume 131 es_ES
dc.identifier.eissn 0006-8950 es_ES
dc.identifier.pmid 18812441 es_ES
dc.relation.pasarela S\505741 es_ES
dc.contributor.funder Instituto de Salud Carlos III es_ES


This item appears in the following Collection(s)

Show simple item record