Presentation
Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]
Deafness can present as part of a syndrome, for example Usher, Pendred, Jervell and Lange-Nielsen and Waardenburg syndromes. [centogene.com]
Delivery is via cesarean delivery because of breech presentation at onset of labor. [pedsinreview.aappublications.org]
In our family, the presentation of the optic atrophy and the bilateral progressive sensorineural hearing loss is similar to the presentation of the families with autosomal dominant optic neuropathy and deafness and a mutation in OPA1. [molvis.org]
Vestibular schwannomas can present with hearing loss, particularly in individuals with NF-2. [ajnr.org]
Entire Body System
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Physician
Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.es]
This is known as genotype-phenotype correlation and allows physicians to predict individuals who are at risk of early-onset kidney failure or more likely to develop extra-renal abnormalities. [rarediseases.org]
Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]
Clinical Input Received From Physician Specialty Societies and Academic Medical Centers While the various physician specialty societies and academic medical centers may collaborate with and make recommendations during this process through the provision [bcidaho.com]
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Hunting
Hunt. AR, Collins. JE, Bruskiewich, R., Beare. DM, Clamp, M., Smink, LJ, Ainscough, R., Almeida, JP, Babbage, A., Bagguley, C., Bailey, J., Barlow, K., Bates. [books.google.es]
Tel Hashomer camptodactyly syndrome Late-onset retinal degeneration Charcot-Marie-Tooth disease Autoimmune lymphoproliferative syndrome Deafness and myopia syndrome 49,XXXXY syndrome Maturity-onset diabetes of the young Hypophosphatemic rickets Tolosa Hunt [checkrare.com]
Ears
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Tinnitus
Tinnitus was reported by some of the affected members, but no other consistent medical or physical abnormalities were detected. [nejm.org]
Patient III:12 referred to episodes of bilateral tinnitus. Figure 2 Audiograms showing the air conduction values obtained from six different affected subjects. Each graph point represents the average hearing loss for the right and left ears. [jmg.bmj.com]
Up to 18% of individuals with NF-2 present before 15 years of age, and hearing loss or tinnitus is the initial symptom in 20% of children who are ultimately diagnosed with the condition. 45, 46 The hearing loss in these cases is usually progressive and [ajnr.org]
Tinnitus was reported by 41.2%." [dizziness-and-balance.com]
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Hearing Problem
Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. [kidney.org]
Neurologic
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Tremor
[…] onset Young adult: SCA 1, 2, 3, 21 Older adult: SCA 6, 35, 36 ; 37 Childhood: SCA 2, 7, 13, 27, DRPLA, 25 Anticipation Some SCA: 1, 2, 3, 6, 7, 8, 10, 12, 17, 22, DRPLA More prominent in SCA 7 & DRPLA Ataxia Truncal: SCA 1 ; 2 ; 6 ; 14 ; 28 ; 31 ; 36 Tremor [neuromuscular.wustl.edu]
Workup
For example if a KNCQ1 mutation is found, additional cardiac workup may be warranted since mutations in this gene are also associated with cardiac rhythm abnormalities. [bcidaho.com]
Clinical Testing and Workup The diagnostic approach to confirming a suspected diagnosis of Alport syndrome has been evolving over the past decade. [rarediseases.org]
Treatment
Stroke 41 (10), 2309-2315, 2010 194 2010 Substance abuse among patients with treatment-resistant schizophrenia: characteristics and implications for clozapine therapy. [scholar.google.co.za]
Prognosis
"Mid-frequency sensorineural hearing loss: aetiology and prognosis." J Laryngol Otol 119 (7): 529-33. Steel KP. A new era in the genetics of deafness. NEJM 1998 Stojkovic and others. [dizziness-and-balance.com]
Okada M, Iwasaki S, et al: The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. Acta Otolaryngol Mar 31:1-4, 2017. [mita.iuhw.ac.jp]
Prognosis Mitral valve prolapse (MVP) is not progressive in childhood, and specific therapy is not indicated for the vast majority of patients. Progression to significant mitral regurgitation (MR) or sudden death is rare. [emedicine.medscape.com]
These factors lend credence to the theory that patients with GJB2 and GJB6 mutations may have a favorable prognosis following cochlear implantation, and that patients with other mutations or without a documented mutation may have a less favorable prognosis [bcidaho.com]
The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. [soar-rd.shinshu-u.ac.jp]
Etiology
Current physiology-based hearing screening protocol generates high false positive rate and is unable to detect early-onset hearing loss and provide a diagnosis that defines underlying etiology. [grantome.com]
Guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 2014; . Accessed June, 2014. Joint Committee on Infant Hearing. [bcidaho.com]
It is due to seeding from the bloodstream and is most commonly viral in etiology. [ajnr.org]
Of note, there’s some debate about the molecular etiology of nonsyndromic sensorineural hearing loss in subjects with only one detectable GJB2 mutation. A minority of such cases is explained by digenic etiology of GJB2 with GJB3 or GJB6. [bredagenetics.com]
Etiologic heterogeneity and cardiac findings. Am J Dis Child. 1991 Jan. 145(1):90-3. [Medline]. Terechtchenko L, Doronina SA, Pochinok EM, Riftine A. [emedicine.medscape.com]
Epidemiology
Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations. [books.google.com]
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.es]
Hearing screening—aspects of epidemiology and identification of hearing impaired children. Int J Pediatr Otorhinolaryngol 1999, 49 (suppl 1):S287-292. [yumpu.com]
From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations; [ommbid.mhmedical.com]
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]
Pathophysiology
Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological [ommbid.mhmedical.com]
Nikolopoulos TP: Auditory dyssynchrony or auditory neuropathy: understanding the pathophysiology and exploring methods of treatment. Int J Pediatr Otorhinolaryngol 2014;78:171-173. [karger.com]
Reports of more families with hearing impairment linked to this novel locus should contribute to the identification of the responsible gene, providing insights into the auditory function and the molecular pathophysiology of age related hearing loss. [jmg.bmj.com]
Pathophysiology Mitral valve prolapse (MVP) is a heterogeneous disorder and may originate from various underlying causes affecting one or more portions of the mitral valve leaflets, chordae tendineae, papillary muscle, and/or valve annulus. [emedicine.medscape.com]
Prevention
See the video Genetic Screening: The Ultimate Preventive Medicine (KCTS/Seattle, 1980). [www2.loras.edu]
WHO activities for prevention of deafness and hearing impairment in children. Scand Audiol Suppl 2001, (53):93-100. [yumpu.com]
[…] but not sufficient to prevent eventual hearing loss. [consilieregenetica.org]
These drugs are blood pressure medications that prevent (inhibit) an enzyme in the body from producing angiotensin II. Angiotensin II is a chemical that acts to narrow blood vessels and can raise blood pressure. [rarediseases.org]
He felt unprepared to consider learning a positive genetic test result without the hope of prevention in the immediate future. [alzres.biomedcentral.com]