Acronym DFNB61 Synonyms Non-syndromic neurosensory deafness autosomal recessive type 61 Non-syndromic sensorineural deafness autosomal recessive type 61 Keywords Any medical or genetic information present in this entry is provided for research, educational [uniprot.org]

Hum Mol Genet. 1997;6:1605–9. [ PubMed: 9285800 ] Author History Glenn Edward Green, MD; University of Arizona (1999-2005) Michael S Hildebrand, PhD (2010-present) A Eliot Shearer (2012-present) Richard JH Smith, MD (1999-present) Guy Van Camp, PhD (1999 [consilieregenetica.org]

Author History Glenn Edward Green, MD; University of Arizona (1999-2005) Michael S Hildebrand, PhD (2010-present) A Eliot Shearer (2012-present) Richard JH Smith, MD (1999-present) Guy Van Camp, PhD (1999-present) Revision History 9 January 2014 (rjhs [archive.fo]

Some degree of sensorineural hearing loss is present in at least 75% of children who become symptomatic. Cutaneous features are also present and include a skin rash, alopecia, and conjunctivitis. [geneticamedicala.org]

Auris Nasus Larynx. 2013; 40 :435–9. [ PubMed : 23477838 ] Chapter Notes Author History Glenn Edward Green, MD; University of Arizona (1999-2005) Michael S Hildebrand, PhD (2010-present) A Eliot Shearer (2012-present) Richard JH Smith, MD (1999-present [ncbi.nlm.nih.gov]

Diagnostic yield in the workup of congenital sensorineural hearing loss is dependent on patient ethnicity. Otol Neurotol, 32 (2011), pp. 81-87 [84] P. Gardner, E. Oitmaa, A. Messner, L. Hoefsloot, A. Metspalu, I. Schrijver. [elsevier.es]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

You can help by adding to it. ( December 2017 ) Treatment [ edit ] Treatment is supportive and consists of management of manifestations. User of hearing aids and/or cochlear implant, suitable educational programs can be offered. [en.wikipedia.org]

To prevent metabolic coma, diet and treatment should be initiated as soon as possible [ Heller et al 2002, Wolf et al 2002 ]. [geneticamedicala.org]

Confirmation of a clinical diagnosis through genetic testing of non-syndromic sensorineural deafness can allow for genetic counseling and may direct medical management and treatment options. [centogene.com]

In addition, a genetic diagnosis can prevent unnecessary testing (CT, MRI, neurophysiological studies, etc.). - Prognosis: it is often possible to predict the evolution of deafness, establishing a prognosis based on the genotype of each patient. 30,31 [elsevier.es]

In addition, a genetic diagnosis can preventary testing (CT, MRI, neurophysiological studies,s: it is often possible to predict the evo-f deafness, establishing a prognosis basedgenotype of each patient.30,31 In this case,studies condition the monitoring [myslide.es]

Correctly diagnosing the specific cause of hearing loss in an individual can provide information on prognosis and is essential for accurate genetic counseling. The following is usually required: Family history. [geneticamedicala.org]

Acquired causes should be differentiated from genetic causes to inform the evaluation and required ancillary testing (i.e., CT, MRI, and consultation with specialists) and to inform prognosis and treatment recommendations. Figure 2. [ncbi.nlm.nih.gov]

In 30.4% of the cases without a (known) family history of HI (isolated cases), the molecular etiology could be identified, the majority harboring causative variants in genes associated with arHI. [nature.com]

Prevention of Secondary Complications Regardless of its etiology, uncorrected hearing loss has consistent sequelae. [ncbi.nlm.nih.gov]

Establishing the etiology of childhood hearing loss. Otolaryngol Head Neck Surg, 120 (1999), pp. 159-163 [22] S. Albert, H. Blons, L. Jonard, D. Feldmann, P. Chauvin, N. Loundon, et al. [elsevier.es]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Relevant External Links for SLC26A5 Genetic Association Database (GAD) SLC26A5 Human Genome Epidemiology (HuGE) Navigator SLC26A5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC26A5 No data available for Genatlas for SLC26A5 Gene Splice [genecards.org]

Periodic surveillance is also important. [2] Epidemiology [ edit ] About 1 in 1,000 children in the United States is born with profound deafness. By age 9, about 3 in 1,000 children have hearing loss that affects the activities of daily living. [en.wikipedia.org]

Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection. [ncbi.nlm.nih.gov]

In the future, a deeper understanding of the pathophysiological mechanism responsible for a particular type of hearing loss could enable specific therapies directed against specific molecular alterations. 41 Non-syndromic Genetic Hearing Loss: Genes Most [elsevier.es]

In the future,nderstanding of the pathophysiological mecha-nsible for a particular type of hearing loss couldcic therapies directed against specic molecular.41222 R. Cabanillas Farpn, J. [myslide.es]

[…] but not sufficient to prevent eventual hearing loss. [archive.fo]

[…] as early as possible to prevent irreversible sequelae. [ncbi.nlm.nih.gov]

The benefits for patients can be classified into five main areas: prevention, diagnosis, prognosis, treatment and reproduction. - Prevention: preventive measures are effective in hereditary hearing loss conditioned by environmental factors, such as mutations [elsevier.es]