Arts syndrome
Última actualización 18 Aug 2020
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Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.
Descripción
Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.
Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).
Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.
In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.
Patrones de herencia
The source lists the following possible inheritance patterns: X-linked dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Ataxia, fatal X-linked, with deafness and loss of vision
Ataxia-deafness-optic atrophy, lethal
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Lecturas adicionales y referencias
- Arts syndrome; MedlinePlus, National Library of Medicine.
- Arts WF, Loonen MC, Sengers RC, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol. 1993 May;33(5):535-9. doi: 10.1002/ana.410330519.
- de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024.
- de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3.
- de Brouwer APM, Christodoulou J. Phosphoribosylpyrophosphate Synthetase Deficiency. 2008 Oct 21 [updated 2023 Jun 8]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK2591/
- Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC. Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood. Hum Genet. 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250.
- Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D. Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy. Int J Audiol. 2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032. Epub 2012 Nov 28.
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