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Autosomal Recessive Deafness 42

Autosomal Recessive Deafness Type 42


Presentation

  • The presentation of basic science underlying clinical otorhinolaryngology has been expanded, and molecular mechanisms and genetics of disease are presented.[books.google.com]
  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ Página 188 - Dudding, BA, Gorlin, RJ, and Langer, LO: The oto-palato-digital syndrome.[books.google.es]
  • DFNB1 is present at birth and does not worsen over time; however, the severity of the hearing loss varies among individuals.[geneaware.clinical.bcm.edu]
  • Reduced ceruloplasmin secretion and low serum copper are present. Genetics This is an autosomal recessive disorder resulting from homozygous or compound heterozygous mutations in SLC33A1 (3q25) encoding an acetylCoA transporter (AT-1).[disorders.eyes.arizona.edu]
Movement Disorder
  • disorders Chorea DRPLA, 17 1 (Late stage) Myoclonus DRPLA 2, 19 Tremor 2, 8, 12 15, 21, 27 Parkinsonism 3, 9, 12, 17 2, 21 Dystonia 3 17 Ocular disorders Ophthalmoplegia 3, 2, 1, 9 Nystagmus 1, 3, 6 Slow saccades 2 1, 3, 7, 17 Pigmentary retinopathy[neuromuscular.wustl.edu]
Aspiration
  • New chapters in an expanded section on pediatric Otorhinolaryngology include Congenital Anomalies of the Mandible and Maxilla; Drooling, Dysphagia, and Aspiration; Congenital Anomalies of the Nose and Nasal Airway, Congenital Anomalies of the Larynx and[books.google.com]
Dysphagia
  • New chapters in an expanded section on pediatric Otorhinolaryngology include Congenital Anomalies of the Mandible and Maxilla; Drooling, Dysphagia, and Aspiration; Congenital Anomalies of the Nose and Nasal Airway, Congenital Anomalies of the Larynx and[books.google.com]
  • Mohr-Tranebjaerg syndrome (DFN-1) Mohr-Tranebjaerg syndrome (DFN-1) is an X-linked recessive syndromic hearing loss characterized by postlingual sensorineural deafness in childhood followed by progressive dystonia, spasticity, dysphagia and optic atrophy[dizziness-and-balance.com]
Drooling
  • New chapters in an expanded section on pediatric Otorhinolaryngology include Congenital Anomalies of the Mandible and Maxilla; Drooling, Dysphagia, and Aspiration; Congenital Anomalies of the Nose and Nasal Airway, Congenital Anomalies of the Larynx and[books.google.com]
Hearing Impairment
  • Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the ILDR1 gene on chromosome[malacards.org]
  • This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered.[hereditaryhearingloss.org]
  • Pediatrics 1999, 103, 3:546 Back to top Del Castillo et al 2002 A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.[davinci.crg.es]
  • Hereditary forms of hearing impairment caused by GJB2 mutations are the frequent sensory disorders registered among newborns in various human populations.[cags.org.ae]
  • Affiliated tissues include brain, and related phenotype is sensorineural hearing impairment.[malacards.org]
Ataxia
  • MalaCards based summary : Deafness, Autosomal Recessive 42, also known as dfnb42, is related to nonsyndromic deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.[malacards.org]
  • Age at 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[neuromuscular.wustl.edu]
  • Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia[en.wikipedia.org]
  • It resembles a spinocerebellar degeneration called Fredreich's ataxia which also may exhibit sensorineural hearing loss, ataxia and optic atrophy. The cardiomyopathy characteristic of Freidreichs is not seen in Mohr-Tranebjaerg. Norrie Disease.[dizziness-and-balance.com]
  • […] syndrome AR 10 GRXCR1 613283 Deafness, autosomal recessive 25 AR 2 HGF 142409 deafness type 39 AR 13 ILDR1 609739 deafness type 42 AR 5 KCNJ10 602208 autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia[centogene.com]
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]
  • Eadie, Essential (hereditary or senile) tremor. Med. J. Aust. 1975 / 11 44–47. Google Scholar Quattromani, F., S.D. Shapiro, R.S. Young, R.J. Jorgenson, J.W. Parker, R. Blumhardt, and R.R.[link.springer.com]
Cerebellar Ataxia
  • ataxia, Pure 6, 5 11, 14, 15, 16, 22 Spasticity 3 1, 7 Peripheral neuropathy 3, 4, 18, 25 1 Cortical disorders Dementia 17, DRPLA 2, 13, 19, 21 Psychosis DRPLA, 17 3, 27 (Episodic) Epilepsy 10, DRPLA 17 Movement disorders Chorea DRPLA, 17 1 (Late stage[neuromuscular.wustl.edu]

Treatment

  • […] fellows wishing to train in the specialty, given that the current standard of training requires knowledge in laryngotracheal reconstruction, congenital airway anomalies, or-facial anomalies, speech and voice disorders, head and neck, and diagnosis and treatment[books.google.com]
  • Treatment Treatment Options: No information on treatment has been reported.[disorders.eyes.arizona.edu]
  • Possible treatments include hearing aids, cochlear implants, special training, certain medicines, and surgery.[icdlist.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]
  • 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]

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]

Etiology

  • 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]
  • Genetic Counseling 19 (1), 15 , 2008 12 2008 Deafness on the island of Providencia--Colombia: Different etiology, different genetic counseling MC Lattig, N Gelvez, SL Plaza, G Tamayo, JI Uribe, I Salvatierra, ...[scholar.google.es]
  • Lafon, Etiologies rares de surdites congenitales. Arch.Fr.Pediat. 42 (1986) 503–506. Google Scholar Hu, D.-N., W.-Q. Qiu, B.-T. Wu et al., Genetic aspects of antibiotic induced deafness: Mitochondrial inheritance. J. Med.Genet. 28 (1991) 79–83.[link.springer.com]
  • 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

  • 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]
  • 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]
  • 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 NY Acad Sci 1991 ; 630 : 16 –31.[jmg.bmj.com]
  • Genetic Epidemiological studies of early onset deafness in US School-age population. Am J Med Genet 1993;46:486-91. 16. Van Camp G and Smith RJH. Hereditary Hearing Loss Homepage. . 17. Fraser GR.[ayubmed.edu.pk]
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]

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