Arts syndrome

Symptoms

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.

References
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Are there different forms of Arts syndrome?

Are there other disease that look a lot like Arts syndrome?

My daughter and son both have Arts syndrome, how will it affect them?

Are there different forms of Arts syndrome?

Some scientists consider Arts syndrome part of a spectrum of disease called "PRPS1-related disorders". Arts syndrome is caused by a specific type of change, called a mutation, in a gene 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 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. Specific mutations in the PRPS1 gene cause Arts syndrome.

There are at least three other disorders that are caused by mutations in the PRPS1 gene. They are:

  • PRS superactivity
  • X-linked Charcot-Marie-Tooth disease type 5, and
  • DFNX1 nonsyndromeic hearing loss and deafness (DFN2)

This group of disorders caused by PRPS1 mutations are referred to as "PRPS1-related disorders". Arts syndrome is the most severe of these four disorders; however, some of the symptoms of this group of disorders overlap with each other. In 2015, another PRPS1-related disorder was described in the medical literature that causes more severe symptoms than those seen in Arts syndrome. This disorder does not yet have a specific name.

The best type of doctors to figure out if someone has Arts syndrome or another PRPS1-related disorder 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
  • Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW, Roelofsen J, vanKuilenburg ABP and Mendoza-Londono R. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. European Journal of Human Genetics. 2015 Mar; 23(3):310-316.
  • 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/
Are there other disease that look a lot like Arts syndrome?

Arts syndrome is caused by an unexpected change, called a mutation, in a gene 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 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. Specific mutations in the PRPS1 gene cause Arts syndrome.

There are at least three other disorders that are caused by changes in this gene. They are called PRS superactivity, X-linked Charcot-Marie-Tooth disease type 5 and DFNX1 nonsyndromeic hearing loss and deafness (DFN2). As a group, the disorders caused by a PRPS1 mutations are called "PRPS1-related disorders". Arts syndrome is the most severe of these four disorders; however, some of the symptoms of this group of disorders overlap with each other. In 2015, another PRPS1-related disorder was described in the medical literature that causes more severe symptoms than those seen in Arts syndrome. This disorder does not yet have a specific name.

The best type of doctors to figure out if someone has Arts syndrome or another PRPS1-related disorder 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
  • Mittal R, Patel K, Mittal J, et al. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015; 2015:127013.
  • Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW, Roelofsen J, vanKuilenburg ABP and Mendoza-Londono R. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. European Journal of Human Genetics. 2015 Mar; 23(3):310-316.
My daughter and son both have Arts syndrome, how will it affect them?

Males and females with Arts syndrome have different symptoms. This is because Arts syndrome is caused by a change in a gene located on a sex chromosome. Arts syndrome is caused by an unexpected change, called a mutation, in a gene called PRPS1. People have about 20,000-25,000 genes in their bodies. Genes contain our body's genetic information (called DNA) and they are like our body's instruction manual. When there is a mutation in PRPS1, it 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, resulting in Arts syndrome.

Genes are packaged into microscopic structures called chromosomes. Chromosomes are found in almost every cell of a person’s body. Human cells usually contain 46 chromosomes, or 23 pairs of chromosomes. One chromosome of each pair is inherited from our mother, and the other is inherited from our father. The first 22 pairs of chromosomes are numbered 1-22, and they are the same in males and females. The last pair are called the sex chromosomes and they determine our gender. Females have two X chromosomes (XX) and males have one X chromosome and one Y chromosome (XY).

The PRPS1 gene is located on the X chromosome. Because boys only have one copy of the X chromosome, they also have only one copy of the PRPS1 gene. If boys have a mutation in this gene they will have all of the serious medical symptoms that occur in Arts syndrome. Since females have two copies of the X chromosome, they also have two copies of the PRPS1 gene. If a female has one copy of the PRPS1 gene with a mutation, her other working copy of the PRPS1 gene can mask the harmful effects of the altered copy of the gene. As a result, many females with a PRPS1 mutation will not develop any symptoms of Arts syndrome. For those that do, their symptoms are much more mild compared to boys with Arts syndrome.

References

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