What health problems does Arts syndrome cause?
The main symptoms of Arts syndrome are deafness, muscle problems, intellectual disability, vision loss and susceptibility to infections. The symptoms of Arts syndrome are more severe in males. Many females do not ever develop symptoms of Arts syndrome. For those that do, the symptoms are much milder than they are in boys.
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. Vision loss begins later in childhood. Peripheral neuropathy is another symptom of Arts syndrome. 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 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. The most common symptom of Arts syndrome seen in females is hearing loss, and it generally occurs after a woman is 20 years old.
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.
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