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 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. If someone is interested in testing for a mutation in the PRPS1 gene, a genetics clinic or neurology group would be the best type of medical teams to coordinate this testing.

Female relatives of boys with Arts syndrome may have a chance to develop symptoms of the condition. They may also have a chance to pass the condition on to their children. A genetic counselor can help people understand the risk for Arts syndrome in a family by taking a detailed family history, learning more about the symptoms in the family, and reviewing the results of any Arts syndrome testing done in family members. A review of this information will help a genetic counselor determine if testing for Arts syndrome could be useful for other family members. 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.

Arts syndrome is an extremely rare condition. The medical literature has reported a very small number of patients with Arts syndrome, and these patients have come from fewer than five families (some families had multiple family members affected with Arts syndrome). The Purine Metabolic Patients’ Association, or PUMPA, based in the United Kingdom, offers support to patients and their families who are living with a purine metabolic disorder, like Arts syndrome. Arts syndrome is considered a purine metabolic disorder because people with Arts syndrome cannot make purines correctly. Purines are molecules that are needed to carry out many basic cell functions in our body. PUMPA may be able link you to other families with a disorder of purine metabolism.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

Boys with Arts syndrome start showing symptoms before they are two years old. Although the symptoms can be different from one boy to the next, deafness, muscle problems, and intellectual disability are usually seen before the age of two. Females may never show any signs or symptoms of Arts syndrome. For those that do have symptoms, young adult women may experience some hearing loss in their 20s and they may also develop mild muscle problems. These include hypotonia (low muscle tone), ataxia (poor muscle control), and hyperreflexia (overactive reflexes). Arts syndrome has only been described in a very small number of people. Because of this, the medical community still has much to learn about the disorder including when symptoms typically develop.

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:

Other names for Arts syndrome are:

Arts syndrome has only been described multiple members of five families. Because of this, it is difficult to make broad generalizations about the progression and prognosis of the disorder. Most boys with Arts syndrome reported in the medical literature died in early childhood (by age 6) because of repeated infections, although other boys with the disorder have lived longer. According to published information, the oldest boys with Arts syndrome lived into their late teenage years (17-19 years old). Females may never show any signs or symptoms of Arts syndrome. Those that do tend to have more mild symptoms. There have been no reports of early deaths in females due to symptoms of Arts syndrome.

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.

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. While mutations are gene changes that are harmful to genes, other types of gene changes are not harmful. These type of changes are called "normal variants", or "benign variants". A normal variant of the PRPS1 gene would not cause Arts syndrome. Sometimes when a person has testing of the PRPS1 gene, the laboratory can find a variant in the gene that has not been reported before. It may be difficult for the laboratory to figure out how this variant will affect the gene. These types of gene changes are called "variants of unknown significance", or "variants of uncertain significance". Additional testing may be able to help determine if the variant is a normal variant or a harmful mutation.
A genetic counselor can help explain the meaning of a PRPS1 variant and may be able to recommend additional testing to learn more about a PRPS1 variant. 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.

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.

A child with Arts syndrome demands a lot of time and focus from parents. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy and anger and high levels of anxiety. It is possible for healthy siblings to feel as if they have been pushed aside when parents focus more of their efforts on their child with a chronic illness. Parents should encourage healthy siblings to discuss their concerns and feelings about living with a sibling with a chronic illness. It is important for parents to acknowledge and address these concerns with their healthy children. Healthy siblings can feel more included in the family structure when they help with the care of their sick sibling. Parents are encouraged to make time for activities specifically for healthy siblings. Some siblings may benefit from support outside of the immediate family, such as meeting with a therapist. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs. There are also regional support groups for siblings of children with serious health conditions. Your child’s pediatrician or your local hospital may be able to tell you if this type of support group is available in your area.

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:

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.

In many countries of the world, newborns are tested for several medical conditions at birth. This is called newborn screening. Some people may refer to this testing as the "heel prick test" because a newborn’s heel is pricked to get a blood sample for the test. Arts syndrome is not specifically tested for in newborn screening. Some newborn screening programs include testing for hearing loss. Because boys with Arts syndrome have profound deafness, it is possible that this symptom of the condition could be picked up by newborn screening. However, a baby would have to show more symptoms of Arts syndrome before a medical team would consider testing them for the condition. Testing for Arts syndrome would typically only be ordered if a doctor is suspicious that their patient may have the condition based on their symptoms.

There are several tests that can be used to help diagnose Arts syndrome. Results of some screening tests can suggest to doctors that a patient may have Arts syndrome. These screening tests would typically only be useful in boys, because boys have more severe symptoms of Arts syndrome than females. Many females do not show any symptoms of Arts syndrome, and for those that do, the symptoms are mild.

A test looking at the levels of purines in a urine sample will be abnormal in a boy with Arts syndrome. Purines are molecules that are needed to carry out many basic cell functions in our body. Boys with Arts syndrome are not able to make purines correctly, so results of a urine purine text would be abnormal. Doctors may also order a test of uric acid in a blood sample. Uric acid is a chemical that is created when the body breaks down purines. Uric acid levels in boys with Arts syndrome are in the normal range, but they are on the lower end of the normal range. These test results may lead doctors to order more specific testing for 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 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 a specific type of mutation occurs in the PRPS1 gene, it causes Arts syndrome. A doctor can order a test of the PRPS1 gene in a patient with symptoms of Arts syndrome.
Detecting a certain type of mutation in the PRPS1 gene confirms a diagnosis of Arts syndrome. This type of genetic testing must be performed at a specialized laboratory. A genetic counselor or medical geneticist can help you understand the current testing that is available. There is also a list of current labs that offer testing on the Genetic Testing Registry website. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . 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.

As of June 2019, there are no clinical research trials involving Arts syndrome. However, a research study called "Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford (CoRDS)" is listed on the Clinical Trials website at https://clinicaltrials.gov/ct2/show/NCT01793168. The purpose of this registry is to help speed up the progress of research into rare disorders by connecting patients who have rare medical conditions with researchers who study rare disorders.
If you are interested in searching for clinical research specifically for Arts syndrome, visit www.clinicaltrials.gov and search for "Arts syndrome".

There is no one treatment that can improve all of the symptoms of Arts syndrome. Treatment for Arts syndrome is aimed at the specific symptoms of the condition. Arts syndrome 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.

The type of hearing loss seen in Arts syndrome is sensorineural hearing loss. The ear is made up of three parts – the outer ear, the middle ear and the inner ear. The inner ear contains organs for hearing and balance. Sensorineural hearing loss occurs when there is damage to the inner ear, or damage to nerve pathways that connect the inner ear to the brain. Sensorineural hearing loss cannot be corrected by surgery or with medicine. Some people with sensorineural hearing loss can benefit from a cochlear implant. "Cochlear" refers to the cochlea, a specific component of the inner ear. A cochlear implant is an electronic medical device that can do the work of the damaged inner ear and provide sound signals to the brain. Cochlear implants were successfully used to improve communication skills in two brothers with Arts syndrome.

Muscle problems seen Arts syndrome are hypotonia (low muscle tone) and ataxia (poor muscle control). Ataxia can cause difficulty with coordination. As a result, infants and children with Arts syndrome may be clumsy or unsteady. Ataxia is managed through physical therapy, occupational therapy and rehabilitative medicine. Boys with Arts syndrome may benefit from the use of canes, walkers and wheelchairs. Boys with Arts syndrome have significant intellectual disabilities. It is important for boys with Arts syndrome to undergo a thorough assessment of their intellectual abilities. Based on the results of this assessment, an educational support program can be designed specifically for the patient’s needs.

There is no treatment for optic atrophy. 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 When infections occur, they are treated with medication and a hospital stay is often needed. The repeated infections coupled with low muscle tone can lead to breathing difficulty for boys with Arts syndrome. Some patients may eventually require breathing assistance.

Two Australian brothers with Arts syndrome were treated with a dietary supplement called S-adenosylmethionine (SAMe). SAMe is a chemical compound that is naturally found in most cells and tissues of the body. Boys with Arts syndrome are not able to make enough purines, a type of molecule that our cells need to perform basic functions. It is believed that SAMe supplementation may be able to increase purines in boys with Arts syndrome. After starting SAMe supplementation, the Australian brothers with Arts syndrome required fewer hospitalizations and they were able to get their nightly breathing treatments on a more regular schedule. However, the SAMe supplementation was unable to improve all symptoms of Arts syndrome. For example, the brothers’ vision continued to get worse after starting SAMe.

When a woman is pregnant, it is possible to test the baby for certain conditions before the baby is born. This is called prenatal diagnosis. Some parents who have a family member with Arts syndrome may choose to have prenatal diagnosis for 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 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.

If the specific PRPS1 mutation that is causing Arts syndrome in the family is known, then prenatal testing can be performed. During the pregnancy, a test called chorionic villus sampling (CVS) can be performed to remove a sample of tissue from the placenta. Another test, called amniocentesis, involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Only one of these tests needs to be performed. Genetic testing can then be performed on the cells from the placenta or the amniotic fluid to look for the PRPS1 mutation. Detecting the PRPS1 mutation that is know to cause Arts syndrome in the family confirms a diagnosis of Arts syndrome in the fetus. Genetic testing must be performed at a specialized laboratory. It is typically preferable for the prenatal testing to be performed at the same laboratory that first identified the PRPS1 mutation in the family.

A genetic counselor can help you understand more about this process and can help organize testing. 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.

Arts syndrome is a serious medical condition that can be fatal in early childhood. Most boys with Arts syndrome reported in the medical literature have passed away as a result of recurrent infections and their complications before the age of 6. Other boys with Arts syndrome have lived longer – according to published information, the oldest boys with Arts syndrome lived into their late teenage years (17-19 years old). As a result, boys with Arts syndrome may need palliative care. The goal of palliative care is to improve the quality of life for people with serious medical conditions and their families. It focuses on providing patients relief from the symptoms of their disorder. Palliative care ensures that a dying child is as pain free as possible and that all of their physical, social, emotional and spiritual needs are met. It requires close cooperation among family members, immediate relatives, physicians and other medical personnel. A pediatrician, primary care physician or local hospital may be able to offer advice and local resources for palliative care.

The International Children’s Palliative Care Network has specific information and support for families considering palliative care for their children.

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 produce specific proteins that control the growth, development and normal function of the body. The PRPS1 gene makes a protein called phosphoribosyl pyrophosphate synthase 1 (PRPP synthase 1). PRPP synthase 1 helps to make molecules that our cells need to perform basic functions. A mutation in the PRPS1 gene causes PRPP synthase 1 to stop working. Without PRPP synthase 1, many basic functions of the body’s cells are negatively affected, resulting the in the symptoms seen in Arts syndrome.

Boys with Arts syndrome have a very high risk to develop infections. They are especially susceptible to respiratory infections throughout their life, and often have recurrent infections. This is a very severe symptom of Arts syndrome. A common cold can have devastating effects for boys with Arts syndrome. Most boys with Arts syndrome reported in the medical literature died in early childhood because of repeated infections, although other boys with the disorder have lived longer. Most females do not develop symptoms of Arts syndrome. For those that do, there have not been any reports that they are more susceptible to infection.

Arts syndrome is inherited in an X-linked pattern. 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 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 effects of the altered 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. Women who have a mutation in one PRPS1 gene are called "carriers" for Arts syndrome.
Every time a woman has a child, she passes on only one of her X chromosomes to each child. This means that women who are carriers for Arts syndrome pass on only one of their copies of the PRPS1 gene to each child – there is a 50%, or 1 in 2, chance that she will pass on her working copy of the PRPS1 gene, and a 50%, or 1 in 2, chance that she will pass on her non-working copy of the PRPS1 gene. We have no control over which genes we pass onto our children; it is completely random. If a woman passes on a non-working PRPS1 gene to a son, he will have Arts syndrome. If a woman passes on a non-working PRPS1 gene to a daughter, she will be a carrier for Arts syndrome like her mother. Because Arts syndrome causes such severe symptoms, most boys with the disorder pass away in childhood. As a result, there are no reports of males with Arts syndrome having children.
A genetic counselor can help explain X-linked inheritance and how Arts syndrome is passed from generation to generation in families. 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.

A doctor can order testing for Arts syndrome. When a male infant or young boy has symptoms of Arts syndrome (profound hearing loss, muscle problems, intellectual disability, vision loss), he will often be referred to see a specialist such as a pediatric neurologist, geneticist or a metabolic disease specialist. If the medical team is concerned about a diagnosis of Arts syndrome, testing can be ordered.

There are several tests that can be used to help diagnose Arts syndrome. Results of some screening tests can suggest to doctors that a patient may have Arts syndrome. These screening tests would typically only be useful in boys, because boys have more severe symptoms of Arts syndrome than females. Many females do not show any symptoms of Arts syndrome, and for those that do, the symptoms are mild.

A test looking at the levels of purines in a urine sample will be abnormal in a boy with Arts syndrome. Purines are molecules that are needed to carry out many basic cell functions in our body. Boys with Arts syndrome are not able to make purines correctly, so results of a urine purine text would be abnormal. Doctors may also order a test of uric acid in a blood sample. Uric acid is a chemical that is created when the body breaks down purines. Uric acid levels in boys with Arts syndrome are in the normal range, but they are on the lower end of the normal range. These test results may lead doctors to order more specific testing for 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 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 a specific type of mutation occurs in the PRPS1 gene, it causes Arts syndrome. A doctor can order a test of the PRPS1 gene in a patient with symptoms of Arts syndrome.
Detecting a certain type of mutation in the PRPS1 gene confirms a diagnosis of Arts syndrome. This type of genetic testing must be performed at a specialized laboratory. A genetic counselor or medical geneticist can help you understand the current testing that is available. There is also a list of current labs that offer testing on the Genetic Testing Registry website. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . 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.

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.

Newborn boys with Arts syndrome may have profound hearing loss. They often have hypotonia, or low muscle tone, at birth. 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. Before they are 2 years old, boys with Arts syndrome will develop ataxia (poor muscle control). Because these symptoms of Arts syndrome start in the newborn period, the needs of a baby boy with Arts syndrome are different from the needs of other babies. From birth, boys with Arts syndrome will require a specialized treatment plan. They will need to be under the care of several physician specialists and will need other medical services, including physical and occupational therapies. Females may never show any signs or symptoms of Arts syndrome. For those females who have developed symptoms of the condition, the symptoms developed later in life and therefore did not affect their needs as babies.

Arts syndrome is a complex genetic disorder that affects multiple organ systems of the body. Treatment for Arts syndrome changes based on the symptoms of the patient. From birth, boys with Arts syndrome will require a specialized treatment plan. They will need to be under the care of several physician specialists and will need other medical services, including physical and occupational therapies. As boys with Arts syndrome develop new symptoms or their symptoms change, their treatment plan is also likely to change.

Many females never develop any symptoms of Arts syndrome. For those who do, hearing loss after the age of 20 is the most common symptom. Muscle problems may also develop. If a female starts showing signs of Arts syndrome, she should begin to see medical specialists for her symptoms, such as an audiologist for hearing loss or a neurologist for muscle problems.

Arts syndrome is a very serious disorder, and most boys with this condition have not survived past early childhood. For those boys with Arts syndrome who have reached the age of puberty, the medical literature does not describe puberty affecting the course of the disorder. Many females never develop any symptoms of Arts syndrome. Symptoms typically do not begin until after puberty for those females who have been reported to show signs of the condition. Women with Arts syndrome can become pregnant and have children without complication. Their children have a chance to be affected with Arts syndrome.

Boys with Arts syndrome have muscle weakness and other muscle problems that can make physical activity difficult. Boys with Arts syndrome have hypotonia, or low muscle tone, and ataxia, or poor muscle control. This can cause trouble with coordination. Physical and occupational therapies are recommended for boys with Arts syndrome.
Two Australian brothers with Arts syndrome were treated with a dietary supplement called S-adenosylmethionine (SAMe). SAMe is a chemical compound that is naturally found in most cells and tissues of the body. Boys with Arts syndrome are not able to make enough purines, a type of molecule that our cells need to perform basic functions. It is believed that SAMe supplementation may be able to increase purines in boys with Arts syndrome. After starting SAMe supplementation, the Australian brothers with Arts syndrome required fewer hospitalizations and they were able to get their nightly breathing treatments on a more regular schedule. However, the SAMe supplementation was unable to improve all symptoms of Arts syndrome. For example, the brothers’ vision continued to get worse after starting SAMe.

Boys with Arts syndrome do not typically meet their milestones on time. 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. They also have intellectual disability. Many females do not develop symptoms of Arts syndrome. For those females who have developed symptoms of the condition, the symptoms developed later in life and therefore did not affect their ability to reach their early developmental milestones. Females have not been reported to have intellectual disability as a result of 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.

Arts syndrome does not have an official abbreviation. It is sometimes called ARTS.

Women with Arts syndrome can have children. There are no reports that Arts syndrome causes problems with pregnancy. Women with Arts syndrome have a chance to pass the condition on to their children.

Arts syndrome is always 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. When there is a mutation in the PRPS1 gene, it causes Arts syndrome. This is the only cause of Arts syndrome. If someone is interested in testing for a mutation in the PRPS1 gene, a genetics clinic or neurology group would be the best type of medical teams to coordinate this testing.

While there are no specific support groups for family members of people with Arts syndrome, there are support groups that offer help and support for people living with chronic or disabling medical conditions and their families. Some examples include:

Boys with Arts syndrome have physical limitations. Male infants with Arts syndrome are generally very weak with low muscle tone (hypotonia). Profound hearing loss is often present at birth. Boys with Arts syndrome frequently require the use of a wheelchair beginning in early childhood. Ataxia (poor muscle control) can make life with Arts syndrome challenging as it causes difficulty with coordination. Vision loss may start in later childhood and tends to progress over time. Females may never show any signs or symptoms of Arts syndrome. Those who do show symptoms of Arts syndrome are not expected to have the same degree of physical limitations as boys. As young adults, women may develop hearing loss. They may also develop mild muscle problems.

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.

While there are no support groups that are specifically for Arts syndrome, there are several support groups that Arts syndrome patients and their families may find helpful. The Purine Metabolic Patients’ Association, or PUMPA, based in the United Kingdom, offers support to patients and their families who are living with a purine metabolic disorder, like Arts syndrome. Arts syndrome is considered a purine metabolic disorder because people with Arts syndrome cannot make purines correctly. Purines are molecules that are needed to carry out many basic cell functions in our body. PUMPA aims to support patients with purine metabolic disorders and their families in three ways:

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:

Boys with Arts syndrome have moderate intellectual disability. It is important to know that boys with Arts syndrome also have profound hearing loss and can develop vision loss that gets worse over time. These symptoms can make it difficult to determine the degree of intellectual disability in boys with Arts syndrome. Females may never show any signs or symptoms of Arts syndrome. Those who do have not been reported to have intellectual disability as a result of Arts syndrome.

Arts syndrome is caused by an unexpected change, called a mutation, in a gene called PRPS1. If you have a change in the PRPS1 gene, you can pass this altered gene onto your children and they can develop Arts syndrome. 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 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 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. Women who have a mutation in one PRPS1 gene are called "carriers" for Arts syndrome.

Every time a woman has a child, she passes on only one of her X chromosomes to each child. This means that women who are carriers for Arts syndrome pass on only one of their copies of the PRPS1 gene to each child – there is a 50%, or 1 in 2, chance that she will pass on her working copy of the PRPS1 gene, and a 50%, or 1 in 2, chance that she will pass on her non-working copy of the PRPS1 gene. We have no control over which genes we pass onto our children; it is completely random. If a woman passes on a non-working PRPS1 gene to a son, he will have Arts syndrome. If a woman passes on a non-working PRPS1 gene to a daughter, she will be a carrier for Arts syndrome like her mother. Because Arts syndrome causes such severe symptoms, most boys with the disorder pass away in childhood. As a result, there are no reports of males with Arts syndrome having children.
A genetic counselor can help people understand the risk for Arts syndrome in a family by taking a detailed family history, learning more about the symptoms in the family, and reviewing the results of any Arts syndrome testing done in family members. 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.