Arts syndrome


What are the first steps after an initial diagnosis of Arts syndrome?

Once a diagnosis of Arts syndrome is made, several medical examinations should be performed. 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.

Because Arts syndrome affects multiple systems in the body, boys with Arts syndrome will require a specialized treatment plan. They will need to be under the care of several medical specialties, such as a genetics, neurology, otolaryngology, audiology and ophthalmology.

At the time of diagnosis, a patient with Arts syndrome should have a neurology evaluation to look for symptoms of the disorder that affect the nervous system (like muscle problems, delayed motor development and intellectual disability). A hearing test called audiometry should be performed. An eye examination is needed to look for signs of optic atrophy. Optic atrophy is the loss of nerve fibers in the optic nerve of the eye, and it causes vision loss in Arts syndrome. Because boys with Arts syndrome have an increased risk to develop infections, they should be up-to-date on their routine immunizations against childhood infections and should also receive annual flu vaccines.

Lastly, when a patient is diagnosed with Arts syndrome it is important to review the patient's family tree. This is also called a family pedigree. It is possible that there are other people in the family who may have Arts syndrome. There may also be women in the family who could pass Arts syndrome on to their children.

The following list describes the different types of medical specialists that should be involved in 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".
  • 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.
  • 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.

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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