Arts syndrome


What specialists should I see for Arts syndrome?

Arts syndrome is an inherited metabolic disorder that causes profound hearing loss, muscle problems, intellectual disability, nerve problems, vision loss and a susceptibility to infections. These symptoms are always seen in boys. Many females do not develop any symptoms of Arts syndrome. For those that do, their symptoms are much milder. Diseases like Arts syndrome that affect several different organs of the body are typically treated from a multidisciplinary approach - meaning that different specialists work together to provide quality medical care. The following list describes the different types of medical specialists that may be part of a multidisciplinary team for the care of a patient with Arts syndrome. If your doctor does not have a specific recommendation for one or more of the specialists listed, instructions on how to find a specialist in your area are also listed below:

  • Metabolic geneticists are doctors specially trained to diagnose and treat metabolic genetic conditions. Metabolic genetic specialists can be found 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".
  • A genetic counselor can help identify people in the family who may have Arts syndrome or who could possibly pass the syndrome on to their children. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.
  • Neurologists are doctors specially trained to diagnose and treat disorders of the brain, spinal cord and nerves. Neurologists can be found by using the Find a Neurologist tool on theAmerican Academy of Neurology website.
  • An otolaryngologist is a doctor trained in the diagnosis and treatment of disorders of the ear, nose and throat. You can find an otolaryngologist using the American Academy of Otolaryngology's Find an ENT tool.
  • An audiologist is a healthcare worker who diagnoses and treats hearing loss. You can locate an audiologist using the American Academy of Audiologist's Find an Audiologist function.
  • An ophthalmologist is a physician who specializes in the medical care of the eyes. The American Academy of Ophthalmology has a "Find an Ophthalmologist tool on their website.
  • Physical therapists diagnose and treat individuals who have medical problems that limit their abilities to move and perform the basic activities of their daily lives. You can find a physical therapist using the Find a PT tool through the American Physical Therapy Association.
  • Occupational therapists help patients develop and improve skills needed for daily living. You can locate an occupational therapist using this website:
  • Nutritionists are food and nutrition experts. The Academy of Nutrition and Dietetics has a Find an Expert function on their webpage.

Mothers of boys with Arts syndrome have a chance to develop more mild symptoms of the disorder than their sons. Women who are at risk for Arts syndrome should make their primary care physician aware of symptoms of the condition that can develop in females in adulthood, usch as hearing loss, ataxia (poor muscle coordination) and heightened reflexes.

  • 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:

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