When Arts syndrome is a disease that is extremely rare recent evidence indicates. Only a few families are known to have the Arts syndrome. Arts syndrome is present from birth and has genetic causes. The main symptoms of the disease are impaired hearing, ataxia, and optic atrophy.

What is Arts Syndrome?

Arts syndrome is known by the synonymous terms and abbreviations MRXS 18 and MRX Arts. The neurologist Arts first described the disease in 1993 in the Netherlands. Arts syndrome is very rare and currently estimated to have a prevalence of less than 1 in 1,000,000.

Currently, only a few families are known to have the Arts syndrome. The disease showed itself in one family with relatives over five generations. Arts syndrome is characterized by an x-linked recessive inheritance. Basically, Arts syndrome is a serious illness with serious symptoms and a mostly fatal course.

Arts syndrome is typical of ataxia , which manifests itself in both the upper and lower limbs. In addition, the sick people suffer from congenital hypotension . Moreover, that is hearing impaired in the patients that intellectual abilities are below average and there is an optic atrophy .

The different course of the disease in the sexes is significant. Arts syndrome is much more severe in male patients than in women. The boys affected are usually extremely susceptible to infectious diseases , as a result of which they usually die in infancy. In contrast, the disease often tends to be mild to asymptotic in female patients.

The tone of the muscles is usually reduced in the sick . The impairment of hearing results from abnormalities in the structure of the inner ear. The general physical and intellectual development of patients with Arts syndrome is usually delayed. Male sufferers increasingly lose their eyesight in early childhood because the optic nerves degenerate.

Causes

Arts syndrome arises as a result of genetic mutations in the PRPS1 gene. The gene locus Xq22.3 is specifically affected by the changes. The ribose phosphate diphosphokinase is impaired by the gene mutations. Similar reductions in the activity of enzymes also occur in Rosenberg-Chutorian syndrome and the x-linked deafness DFNX1. Arts syndrome inheritance is x-linked recessive.

Symptoms, ailments & signs

Arts syndrome manifests itself in patients from early childhood. There are considerable differences depending on the sex of the sick child. In girls, Arts syndrome can sometimes have no symptoms at all. In some cases, female patients experience hearing loss in adulthood. Often, however, this is the only symptom.

On the other hand, the Arts syndrome is much more severe in boys. The disease already develops in toddlers or infants. The development of motor skills is slower than usual, and the children’s intelligence is also greatly reduced. Other symptoms include ataxia, hearing loss, loss of vision as a result of optic atrophy, and reduced muscle tone.

Some of the sick children suffer from quadriplegia . The male patients show a greatly increased susceptibility to infections. These mainly affect the respiratory organs and airways. As a result of these frequent infectious diseases and their complications, the sick boys usually die in infancy.

Diagnosis

The diagnosis of Arts syndrome is usually made by an adequate specialist in a specialist center for rare genetic diseases. First, an anamnesis is made with the sick infant or toddler and the custodian. The symptoms shown, their onset and possible cases of illness in close relatives are important here.

The main difficulty for the doctor is to differentiate Arts syndrome from other diseases with similar symptoms. Since Arts syndrome is so rare, there is an increased risk of confusion with similar diseases. The diagnosis is based on the one hand on the clinical symptoms and on the other hand on a genetic analysis.

Since the disease is so rare, genetic testing is essential for a reliable diagnosis. The responsible mutations on the PRPS1 gene can be detected in laboratory analyzes of the patient’s genes.

Complications

The complications of Arts syndrome are highly dependent on the patient’s gender and are more common in children. As a rule, complications rarely occur in girls. However, this can be a matter of hearing impairment in old age.

Beyond that, there are no other complications. Boys are more affected by Arts syndrome. Most male children have a strong influence on their fine and gross motor skills. There is also a hearing loss, albeit at a young age. The eyes can also be damaged.

Many patients complain of pain in the muscles. Boys with Arts syndrome are prone to infections and have a weakened immune system. In many cases, this leads to death in childhood due to various infections and inflammations. Targeted treatment of the syndrome is not possible. However, it is possible to combat the symptoms.

Here, a treatment is carried out for all boys in childhood in order to reduce the susceptibility to infection. It cannot be predicted whether this treatment will be successful. Complications and other symptoms can also arise later in life that cannot be influenced in childhood.

When should you go to the doctor?

If you suspect Arts syndrome, you should speak to your pediatrician . Since the syndrome is a rare hereditary disease, parents who suffer from the disease themselves should pay particular attention to the clinical criteria. If, for example, a child is found to have a reduced intelligence and an increased susceptibility to infections, it may be Arts syndrome.

Other warning signs include increasing hearing loss, delayed motor development, and decreased muscle tone. These symptoms usually appear in early childhood and indicate a serious illness. Whether it is Arts syndrome or another gene mutation can be determined at a specialist center for rare genetic diseases.

Patients diagnosed with Arts syndrome should consult their doctor on a regular basis. Unusual symptoms or particularly severe complaints should be clarified in the specialist clinic and treated if necessary. Further complications that require medical attention can arise, especially later in life.

Treatment & Therapy

Basically, a causal treatment of Arts syndrome is not yet possible at the present time. Therefore, the only option of therapy is to alleviate the symptoms of Arts syndrome and thus improve the quality of life of the sick patient. For example, drug treatment plays an important role in alleviating the acute infections that frequently occur in male patients in early childhood.

It is also important to make genetic counseling available to the families concerned. In male patients, the prognosis for Arts syndrome is very poor. The affected people only survive toddlerhood in exceptional cases. Adequate palliative care for children is therefore also important.

Outlook & forecast

A causal treatment or complete cure of the Arts syndrome is not possible according to the current state of medicine. However, the symptoms can be alleviated, which can lead to a noticeable improvement in the quality of life of the affected person.

In general, the prognosis in female patients is significantly more favorable than in male patients. It is not so rare that the female patients in childhood and adolescence show little or no symptoms at all. In adulthood, however, there is a risk that they will lose their hearing.

In numerous male patients, gross and fine motor skills are significantly impaired. In addition, the susceptibility to infection is increased. As a result, many of those affected die from the consequences of an infection in early childhood. There is also the risk of damage to the optic nerve and partial or complete loss of vision.

Without adequate treatment, the prognosis is unfavorable in any case. Medicines are used to relieve symptoms. In addition, the ability to move can be maintained longer through physiotherapeutic measures.

Parents who suspect that their child may have Arts syndrome should see their pediatrician as soon as possible . He can decide which measures are to be initiated in a specific case.

Prevention

There is still no way to prevent Arts syndrome. Families with related illnesses only have the option of using genetic counseling when planning a family. After a diagnosis, some of the symptoms of Arts syndrome can be partially alleviated by means of suitable symptomatic treatment measures.

Aftercare

Since patients with Arts syndrome usually die in childhood, no follow-up care is required. The parents and relatives of the affected children usually need psychological support. The stroke of fate can be worked through as part of trauma therapy and in discussions with other affected persons. In addition, it is important to determine the cause of the disease.

Often times, the doctor will order a genetic test and determine the disease associated with the genetic mutation. Parents should seek genetic counseling if a new pregnancy is planned. Aftercare also includes general measures such as exercise and distraction. Especially in the first days and weeks after the birth and death of the child, it is often difficult for relatives to find distraction.

A therapist can provide support and, if necessary, prescribe calming preparations. Which measures make sense in detail depends on the individual situation and should always be discussed with the responsible doctor. Since the fatal course of the disease is to be expected, preparatory measures can be taken before the child is born in order to better survive the first days and weeks.

You can do that yourself

Because Arts syndrome is a hereditary genetic disorder, sufferers cannot take self-help measures to treat the underlying condition. Those affected and their relatives can, however, help to alleviate the symptoms and better cope with the everyday restrictions associated with the disease.

Those affected often suffer from ataxia, i.e. a disturbance in the coordination of movements that manifests itself in the arms and legs and can also impair the ability to speak. Depending on the severity of the ataxia, however, patients can at least partially maintain their mobility using walking sticks , other walking aids or a wheelchair .

Stair lifts and special devices for the bathtub can increase the freedom of movement within your own four walls and enable as independent a life as possible. In addition, physiotherapeutic measures can help improve coordination skills. In the case of speech disorders, a speech therapist should be consulted at an early stage . Regular, targeted speaking exercises can improve language skills.

In addition, many sufferers of Arts syndrome have only a below-average level of intellectual abilities. The parents of affected children should therefore inform educators and teachers about the disease. In addition, it is necessary to look for a place in a special school or another suitable facility as early as possible, which enables the child concerned to receive optimal support.