Otosclerosis

Common Name(s)

Otosclerosis

Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by {16:Tomek et al., 1998}). Genetic Heterogeneity of Otosclerosis The locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 ({605727}) on chromosome 7q; OTSC3 ({608244}) on chromosome 6p; OTSC4 ({611571}) on chromosome 16q; OTSC5 ({608787}) on chromosome 3q22-q24; OTSC7 ({611572}) on chromosome 6q13; OTSC8 ({612096}) on chromosome 9p13.1-q21.11; and OTSC10 ({615589}) on chromosome 1q41-q44. The symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Otosclerosis" for support, advocacy or research.

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Vestibular Disorders Association

VEDA's mission is to serve people with vestibular (inner ear balance) disorders by providing access to information, offering a support network, and elevating awareness of the challenges associated with these conditions.

Last Updated: 20 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Otosclerosis" for support, advocacy or research.

Logo
Vestibular Disorders Association

VEDA's mission is to serve people with vestibular (inner ear balance) disorders by providing access to information, offering a support network, and elevating awareness of the challenges associated with these conditions.

https://vestibular.org

Last Updated: 20 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Otosclerosis" returned 65 free, full-text research articles on human participants. First 3 results:

CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
 

Author(s): Jacqueline M Ogier, Marina R Carpinelli, Benedicta D Arhatari, R C Andrew Symons, Benjamin T Kile, Rachel A Burt

Journal:

 

CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed ...

Last Updated: 20 May 2014

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Saccular function in otosclerosis patients: bone conducted-vestibular evoked myogenic potential analysis.
 

Author(s): Amin Amali, Parvane Mahdi, Alireza Karimi Yazdi, Mohammad Taghi Khorsandi Ashtiyani, Nasrin Yazdani, Varasteh Vakili, Akram Pourbakht

Journal: Acta Med Iran. 2014 ;52(2):111-5.

 

Vestibular involvements have long been observed in otosclerotic patients. Among vestibular structures saccule has the closest anatomical proximity to the sclerotic foci, so it is the most prone vestibular structure to be affected during the otosclerosis process. The aim of this study ...

Last Updated: 24 Mar 2014

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Contribution of Vestibular-Evoked Myogenic Potential (VEMP) testing in the assessment and the differential diagnosis of otosclerosis.
 

Author(s): Ourania Tramontani, Eleni Gkoritsa, Eleftherios Ferekidis, Stavros G Korres

Journal:

 

The aim of this prospective clinical study was to evaluate the clinical importance of Vestibular-Evoked Myogenic Potentials (VEMPs) in the assessment and differential diagnosis of otosclerosis and otologic diseases characterized by "pseudo-conductive" components. We also investigated ...

Last Updated: 10 Feb 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Otosclerosis" returned 5 free, full-text review articles on human participants. First 3 results:

Cochlear otosclerosis.
 

Author(s): Sebahattin Cureoglu, Muzeyyen Y Baylan, Michael M Paparella

Journal: Curr Opin Otolaryngol Head Neck Surg. 2010 Oct;18(5):357-62.

 

The aim of this study is to summarize current advances in research and clinical aspects of cochlear otosclerosis.

Last Updated: 9 Sep 2010

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Pediatric otosclerosis: case report and literature review.
 

Author(s): Raquel Salomone, Paulo Emmanuel Riskalla, Andy de Oliveira Vicente, Maria Carmela Cundari Boccalini, Adriana Gonzaga Chaves, Renata Lopes, Gilberto Bolivar Felin Filho

Journal: Braz J Otorhinolaryngol. ;74(2):303-6.

 

Otospongiosis is an osteodystrophy of the temporal bone, characterized by disordered neoformation and deposition of bone, characterized by the presence of a progressive conductive, sensorineural or mixed hearing loss and tinnitus. Typically, otospongiosis presents as a slowly progressive ...

Last Updated: 23 Jun 2008

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[Otosclerosis imaging: matching clinical and imaging data].
 

Author(s): F Veillon, J L Stierle, J Dussaix, L Ramos-Taboada, S Riehm

Journal: J Radiol. 2006 Nov;87(11 Pt 2):1756-64.

 

Otosclerosis is a primitive osteodystrophia of the labyrinthine bone. Its diagnosis must be confirmed by a CT scan in order to eliminate the other causes that may lead to conductive hearing loss with an absence of stapedial reflex: fixation of the head of the malleus to the lateral ...

Last Updated: 24 Nov 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.