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Y-Linked Deafness 1

DFNY1


Presentation

  • At the age of eight, the boy presented with cough and acute onset breathlessness.[bjmp.org]
  • Eye abnormalities in XLAS and ARAS are very similar in presentation. Eye abnormalities are uncommon in ADAS.[rarediseases.org]
  • High levels of galactose are present causing mental retardation, cataracts and cirrhosis of the liver.[staff.um.edu.mt]
  • Hearing loss that is present at birth can be syndromic, meaning the individual will have other health issues present, such as problems with vision, balance, or even heart problems 1.[nationalhearingtest.org]
  • In the present study, we focused on Transducin beta-like 1Y (TBL1Y), which is a Y-linked homologue of TBL1X that is related with X-linked late-onset sensorineural deafness.[link.springer.com]
Hearing Impairment
  • "Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family". Journal of Medical Genetics. 41 (6): e80. doi : 10.1136/jmg.2003.012799. PMC 1735813. PMID 15173246.[en.wikipedia.org]
  • impairment 32 HP:0000407 Drugs & Therapeutics for Deafness, Y-Linked 1 Genetic Tests for Deafness, Y-Linked 1 Anatomical Context for Deafness, Y-Linked 1 Publications for Deafness, Y-Linked 1 Variations for Deafness, Y-Linked 1 Expression for Deafness[malacards.org]
  • V-21 (proband) showed severe hearing impairment (A); VI-28 suffered mild hearing impairment (B); V-30 showed moderate hearing impairment (C); and VI-14, as a control, exhibited normal hearing (D).[jmg.bmj.com]
  • She won Miss Deaf South Africa in 2012 and says she is 'proudly hearing impaired' Miss Botha Welgemoed is the principal dancer at Bovim Ballet Co in South Africa and a vocal representative of the hearing impaired community She wears her cochlear implant[dailymail.co.uk]
  • Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991; 630 : 16-31[ PubMed ] 3. Bayazit YA, Yilmaz M. An overview of hereditary hearing loss. ORL J Otorhinolaryngol Relat Spec. 2006; 68 (2): 57-63[ DOI ][ PubMed ] 4.[zjrms.com]

Treatment

  • Diagnosis and Treatment After your child is tested, the audiologist will discuss your child's diagnosis with you, along with recommendations for appropriate treatment: If your child has a hearing loss, we will refer you to a physician in the PAMF Department[pamf.org]
  • Alport Syndrome treatment at eMedicine Name, Your. "EdRen - Edinburgh Royal Infirmary Renal Unit - Alport anti-GBM disease". www.edren.org. Retrieved 2016-02-17. Tryggvason K, Heikkilä P, Pettersson E, Tibell A, Thorner P (1997).[en.wikipedia.org]
  • Treatment and Prevention Sensorineural hearing loss or deafness tends to be permanent because it involves damage to nerves or to the inner ear.[medbroadcast.com]
  • Since her initial diagnosis, Cafferty has inspired a campaign to raise 134,000 (approx. 176,800) which was to be used for treatment in specialist centers around the world.[healthbreakingnews.net]
  • Kashtan, MD – Alport syndrome and Thin Basement Membrane Nephropathy ; Alport syndrome Treatments and Outcomes Registry (ASTOR) ; National Organization of Rare Diseases, Alport syndrome You can find additional information about Alport syndrome genetics[alportsyndrome.org]

Prognosis

  • Although most people affected die in early adulthood, the age of onset, rate of progression, disease complications, as well as overall prognosis and outcome vary within families [5, 10].[bjmp.org]
  • "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]
  • For those with classic Alport syndrome, hearing aids are often required in teenage or young adult years. [ citation needed ] Prognosis [ edit ] Studies of the life expectancy of patients with Alport syndrome are rare, but one 2012 study of 456 male patients[en.wikipedia.org]

Etiology

  • Many cases (25–30%) of DCM are familial, indicating a genetic contribution to the etiology.[bjmp.org]
  • It has diverse etiologies and is not attributed to a single genetic locus. The incidence is roughly 1 in 45,000. (Scholtz et al, 2001). Jervell and Lange-Nielsen Syndrome This hearing syndrome is associated with cardiac arrhythmias.[dizziness-and-balance.com]

Epidemiology

  • 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]
  • Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991; 630 : 16-31[ PubMed ] 3. Bayazit YA, Yilmaz M. An overview of hereditary hearing loss. ORL J Otorhinolaryngol Relat Spec. 2006; 68 (2): 57-63[ DOI ][ PubMed ] 4.[zjrms.com]
  • Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991 ; 630 : 16 –31. Marazita ML , Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population.[jmg.bmj.com]
  • Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991 ;630: 16 - 31 2. Reardon W. Genetic deafness. J Med Genet 1992 ;29: 521 - 526 3. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE.[nejm.org]
  • Genetic epidemiology of hearing impairment. Ann NYAS 630;16-31. Nakamura Y and others. Abnormal evoked potentials of Kearns-Sayre syndrome.[dizziness-and-balance.com]
Sex distribution
Age distribution

Pathophysiology

  • […] has been described very rarely in patients with early-onset disease. [6] Leiomyomas, tumours of smooth muscle affecting the oesophagus and female genital tract, may occur in a rare overlap syndrome involving the adjacent COL4A5 and COL4A6 genes. [10] Pathophysiology[en.wikipedia.org]

Prevention

  • To prevent this type of hearing loss it is important to wear proper hearing protection and avoid exposure to loud noise whenever possible.[medbroadcast.com]
  • Mutations in any of these genes prevent the proper production or assembly of the specialised type IV collagen '345' network which is an important structural component of basement membranes in the kidney, inner ear, and eye.[en.wikipedia.org]
  • These consequences can be prevented if the disorder is recognised and treated in early infancy using special milk substitutes that do not contain galactose and lactose.[staff.um.edu.mt]
  • It’s a preventative. And my disaster happened quickly, without fanfare or drama. One second, I was a nice, normal, happy pregnant married woman of 32, walking across my bedroom to my desk while my husband made lunch downstairs.[theguardian.com]

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