Audiological Findings in Charcot-Marie-Tooth Disease Type 4C

Fecha de publicación: 01/04/2017

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

Sivera, R
Espinos, C
Perez-Garrigues, H

Grupos

Biomedicina Molecular, Celular y Genómica

Leader

José María Millán Salvador
Patología Neuromuscular y Ataxias

Investigador Principal

Teresa Sevilla Mantecón

Abstract

OBJECTIVE: Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary demyelinating early onset neuropathy with prominent unsteadiness and occasional cranial nerve involvement. Vestibulopathy caused by the dysfunction of cranial nerve VIII has been demonstrated in a high percentage of these patients, but the presence and degree of auditory neuropathy are unknown. The aim of the study was to characterize the hearing abnormalities of a series of patients with CMT4C and to determine the presence and severity of auditory neuropathy (AN) in these patients. MATERIALS and METHODS: Ten patients with genetically confirmed CMT4C underwent comprehensive clinical and audiological testing. The results were compared among patients in different age groups and also to the results of vestibular testing that had already been performed. RESULTS: Only 3 patients had hearing problems, but 9 had hearing abnormalities on ancillary testing that were compatible with different degrees of auditory nerve dysfunction. In the mildest cases, only the abnormality of the stapedial reflex and distortion of wave I in auditory brainstem responses could be detected. In the more severe cases, tonal audiometry revealed asymmetric hearing loss. These findings were more severe in older patients, even after correcting for age-related hypoacusia. In these patients, vestibular dysfunction could also be detected and seemed to be more profound and symmetric than hearing loss. CONCLUSION: This report confirms and defines the presence of different degrees of auditory neuropathy in all patients with CMT4C, being detectable, usually unilaterally, during infancy, and worsening with disease progression.

Datos de la publicación

ISSN/ISSNe:: 1308-7649, 2148-3817
Tipo:: Article
Páginas:: 93-99
DOI:: 10.5152/iao.2017.3379
Factor de Impacto:: 0,355 SCImago ℠
Cuartil:: Q3 SCImago ℠

Documentos

No hay documentos

Métricas

Filiaciones

Sivera, R:: Hosp Francisco de Borja, Dept Neurol, Av Med 6, Gandia, Spain
Cavalle, L:: Hosp Univ & Politecn La Fe, Dept Otol, Bulevar Sur S-N, Valencia, Spain
Vlchez, JJ:: Hosp Univ & Politecn La Fe, Dept Neurol, Bulevar Sur S-N, Valencia, Spain

Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain

Univ Valencia, Dept Med, Av Blasco Ibanez 15, Valencia, Spain
Espinos, C:: Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain

Ctr Invest Principe Felipe CIPF, Program Rare & Genet Dis, C Eduardo Primo Yufera 3, Valencia, Spain

Ctr Invest Principe Felipe CIPF, IBV CSIC Associated Unit, C Eduardo Primo Yufera 3, Valencia, Spain

Univ Valencia, Dept Genet, Av Blasco Ibanez 15, Valencia, Spain
Perez-Garrigues, H:: Hosp Francisco de Borja, Dept Neurol, Av Med 6, Gandia, Spain
Sevilla, T:: Hosp Univ & Politecn La Fe, Dept Neurol, Bulevar Sur S-N, Valencia, Spain

Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain

Univ Valencia, Dept Med, Av Blasco Ibanez 15, Valencia, Spain