Arts syndrome
Overview
What can you tell me about Arts Syndrome?
Arts syndrome is a rare genetic condition that causes serious medical concerns in males. Symptoms include deafness, muscle problems, intellectual disability and vision loss. In general, females develop much milder symptoms. Boys with Arts syndrome can have significant hearing loss from birth. They also have hypotonia from birth. Hypotonia is low muscle tone - infants with Arts syndrome may be described as unusually "floppy". Boys with Arts syndrome have delayed motor development, meaning that it takes them longer to do things like rolling over, or sitting up without help, than would typically be expected. Ataxia is also seen in Arts syndrome. Ataxia means poor muscle control, and it can cause difficulty with coordination. As a result, infants and children with Arts syndrome may be clumsy or unsteady. All of these symptoms usually occur in a boy with Arts syndrome before he is 2 years old.
Other symptoms of Arts syndrome start later in childhood. These can include vision loss and peripheral neuropathy. Peripheral neuropathy is feelings of weakness, numbness and pain in the hands and feet caused by damage to nerves in the body. Boys with Arts syndrome are also more prone to develop infections. The infections and their complications can be quite severe. As a result, boys with Arts syndrome do not often survive childhood.
Many females who have the genetic change that causes Arts syndrome do not develop symptoms of the condition. For those that do, hearing loss is the most common symptom, and generally occurs after a woman is 20 years old. Less often, females may develop milder symptoms of the muscle problems seen in males with Arts syndrome, like hypotonia and ataxia.
The symptoms of Arts syndrome can differ from one person to the next. Even in the same family, if more than one person has Arts syndrome, they may develop different symptoms or their symptoms may begin at different ages.
The best type of doctors to figure out if someone has Arts syndrome are metabolic geneticists (doctors specially trained to diagnose and treat metabolic genetic conditions) or neurologists (doctors specially trained to diagnose and treat disorders of the brain, spinal cord and nerves). Metabolic genetic specialists can be found by asking for recommendations from your regular doctor, or by using the American College of Medical Geneticists website. In the "search by genetic service type(s)" heading, choose "General Genetic Services" from the "Clinic Service Type" drop down menu, and check the "Metabolic" box under "Clinic Services". Neurologists can be found by asking for recommendations from your regular doctor, or by using the "Find a Neurologist" tool on the American Academy of Neurology website.
References
- de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
- "Arts syndrome." Genetics Home Reference. Sept 2014. Web. 14 June 2016. https://ghr.nlm.nih.gov/condition/arts-syndrome
More Overview Content
What is X-linked fatal ataxia with deafness and loss of vision?
Can you abbreviate Arts syndrome?
Can you prevent Arts syndrome?
What is X-linked fatal ataxia with deafness and loss of vision?
Other names for Arts syndrome are:
- X-linked fatal ataxia with deafness and loss of vision
- Lethal ataxia with deafness and optic atrophy
- Lethal ataxia-deafness-optic atrophy
References
- “Lethal ataxia with deafness and optic atrophy.” Orphanet. Sept 2008. Web. 14 June 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN
How common is Arts syndrome?
Arts syndrome is a very rare disorder. So far, all of the individuals with Arts syndrome who have been reported in the medical literature come from fewer than five families. Some families had multiple members who were diagnosed with Arts syndrome. Because Arts syndrome is such a rare disorder, medical teams may not think of it as a possible diagnosis for a patient. Rare disorders are frequently unrecognized and they are also often diagnosed as a different disorder. As a result, the incidence and prevalence of rare disorders is often unclear or unknown.
References
- Dodge JA, Chigladze T, Donadieu, et al. The importance of rare diseases: from the gene to society. J Arch Dis Child. 2011;96(9):791-2.
- Mittal R, Patel K, Mittal J, et al. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015;2015:127013. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458296
Can you abbreviate Arts syndrome?
Arts syndrome does not have an official abbreviation. It is sometimes called ARTS.
References
- “Arts syndrome; ARTS.” Online Mendelian Inheritance in Man. 1 March 2016. Web. 14 June 2016. http://omim.org/entry/301835
Can you prevent Arts syndrome?
There is nothing you could have done to prevent Arts syndrome. Arts syndrome is caused by an unexpected change, called a mutation, in one of the body's genes. This gene is called PRPS1. People have about 20,000-25,000 genes in their bodies. Our genes contain our body's genetic information, called DNA. Genes are inherited from our parents and passed on to our children. Genes are like our body's instruction manual – they control the growth, development and normal function of the body. When a mutation happens in a gene, the gene cannot work properly. It is like a section of the body's instruction manual is not correct, and it causes problems with the normal development and functioning of the body. When there is a mutation in the PRPS1 gene, it causes Arts syndrome. You have no control over whether you inherit a PRPS1 gene with a mutation from your parent, or whether you pass it on to your children.
References
- de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
