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Autosomal Recessive Deafness 1B

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type DFNB


Presentation

  • Clinical description The majority of cases presenting at birth concern perceptive deafness (with a neurosensory origin associated with the inner ear) rather than conductive deafness (anomalies in the amplification of sound waves between the middle ear[orpha.net]
  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • Otitis media without infection presents a special problem because symptoms of pain and fever are usually not present. Therefore, weeks and even months can go by before parents suspect a problem.[asha.org]
  • On the other hand, a negative result substantially reduces the likelihood that a syndrome is present, alleviating concerns about the future development of these features.[personalizedmedicine.partners.org]
  • Here we report the case of a Portuguese female, aged 47, presenting with severe to profound HL and hypothyroidism. Her mother and sister, both deceased, had suffered from HL and goiter.[ncbi.nlm.nih.gov]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Case 1 Case 2 Father Mother Blood thiamine level (16–48) ng/ml before treatment 52 ng/ml 66 ng/ml 44 ng/ml 21 ng/ml during treatment 50 ng/ml 60 ng/ml Blood transketolase (0.75–1.30) IU/gHb before treatment 1.24 IU/gHb 1.19 IU/gHb 0.89 IU/gHb 1.08 IU[annsaudimed.net]
  • A physician should handle the medical treatment. Ear infections require immediate attention, most likely from a pediatrician or otolaryngologist (ear doctor).[asha.org]
  • Thirty-six states now mandate universal screening of newborns resulting in earlier identification and treatment. Hereditary hearing loss may also be progressive or adult in onset.[emedicine.medscape.com]
  • 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]

Prognosis

  • Determining the etiology of hearing loss is important in determining prognosis (e.g. whether the severity of hearing impairment will worsen), optimal therapeutic interventions (e.g. hearing aids, cochlear implant, sign language) and recurrence risks to[personalizedmedicine.partners.org]
  • Screening to identify carriers, genetic counseling, and prenatal diagnosis can greatly reduce the rate of birth of affected infants and improve the prognosis of affected patients.[jpma.org.pk]

Etiology

  • Background Hearing loss has an incidence of 1 in 250 births and over half of isolated childhood hearing loss has a genetic etiology, with many genes involved.[personalizedmedicine.partners.org]
  • Repository NIGMS Human Genetic Cell Repository Subcollection Heritable Diseases Class Disorders of Uncertain Biochemical Etiology Quantity 0.050mg Quantitation Method Please see our FAQ Biopsy Source Peripheral vein Cell Type B-Lymphocyte Tissue Type[catalog.coriell.org]
  • Etiology To date, 86 causative genes for sensorineural deafness have been identified and localised and 37 of these genes have been cloned. Eleven of these genes have been implicated in both isolated and syndromic forms of deafness.[orpha.net]
  • Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8 Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia-dysmorphism syndrome Sporadic adult-onset ataxia of unknown etiology[se-atlas.de]
  • Tourette syndrome associated with pervasive developmental disorder: Is there an etiological relationship? J. Multihand. Pers. 1: 281–291. Google Scholar Sverd, J. (1991).[link.springer.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.it]
  • Summary Epidemiology Between 1 in 1,000 and 1 in 700 children were born with profound or severe hearing loss.[orpha.net]
  • 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]
  • […] heredity is not known. [9] Saunders et al demonstrated a prevalence of significant hearing loss of 18% in a group of school-aged children in rural Nicaragua with a familial history of hearing loss in 24% of the children with hearing loss. [8] Large-scale epidemiologic[emedicine.medscape.com]
  • 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]
Sex distribution
Age distribution

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]

Prevention

  • Current statistics can be found on the Early Hearing Detection & Intervention (EHDI) Program Web site published by the Centers for Disease Control and Prevention.[emedicine.medscape.com]
  • (Homepage) (Online) Available from URL: . 10.Primary health care approaches for the prevention and control of congenital and genetic disorders: report of a WHO meeting, 1999 Dec 6-8, Cairo, Egypt. Geneva: World Health Organization, 2000.[jpma.org.pk]

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