Change search
ReferencesLink to record
Permanent link

Direct link
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics.
2015 (English)In: Scandinavian Cardiovascular Journal, ISSN 1401-7431, Vol. 49, no 1, 7-13 p.Article in journal (Refereed) Published
Abstract [en]

Objectives. To investigate the possible association between Jervell and Lange-Nielsen Syndrome (JLNS) genotype and vestibular dysfunction. Design. In 15 cases with JLNS, clinical data obtained from a semi-structured interview and full medical records were reviewed and post-rotatory nystagmus testing was performed. Results. All genotyped cases (n = 14) had double KCNQ1 mutations. Symptoms of impaired balance were reported in 14/14 deaf JLNS cases. Gross motor developmental delay (not walking without support at 18 months of age) was seen in 11/12 cases with available data (mean age for walking: 24 months). A pathologic post-rotatory test was seen in 9/9 tested subjects, and in 3 subjects clinical testing had been performed showing complete lack of vestibular function. Vestibular dysfunction was seen in deaf JLNS cases with (n = 5) and without (n = 9) cochlear implants, including subjective symptoms (5/5 vs. 9/9) and gross motor developmental delay (5/5 vs. 6/8). Conclusions. We identified a high frequency of symptoms and signs associated with vestibular dysfunction in deaf JLNS cases, irrespective of previous cochlear implantation. Disruption of endolymph homeostasis in the inner ear, including cochlea and vestibular system, by profound KCNQ1 function loss is the proposed mechanism.

Place, publisher, year, edition, pages
2015. Vol. 49, no 1, 7-13 p.
Keyword [en]
gross motor developmental delay, Jervell and Lange-Nielsen Syndrome, KCNQ1 mutations, enotype, vestibular dysfunction
National Category
URN: urn:nbn:se:umu:diva-101407DOI: 10.3109/14017431.2014.988172ISI: 000350104900002PubMedID: 25471708OAI: diva2:839316
Available from: 2015-07-02 Created: 2015-03-30 Last updated: 2015-07-02Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Winbo, AnnikaRydberg, Annika
By organisation
In the same journal
Scandinavian Cardiovascular Journal

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 104 hits
ReferencesLink to record
Permanent link

Direct link