Diseases

Arts Syndrome – Causes, Symptoms & Treatment

Arts-Syndrom

Arts syndrome is a disease that has been found to be extremely rare. Only a few families are known to have had 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 the Netherlands in 1993. The incidence of Arts syndrome is very rare, with a prevalence estimated at less than 1 in 1,000,000 according to current estimates.

Currently, only a few families are known in which Arts syndrome has occurred. The disease appeared in one family among relatives over five generations. Arts syndrome is characterized by an X-linked recessive mode of inheritance. Basically, Arts syndrome is a serious disease with severe symptoms and a mostly fatal outcome.

Ataxia is typical of Arts syndrome and can be seen in both the upper and lower limbs. In addition, the sick people suffer from congenital hypotension . In addition, the hearing ability of the patients is impaired , the 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 females. The affected boys are usually extremely susceptible to infectious diseases , as a result of which they usually die in infancy. In contrast, the course of the disease in female patients often tends to be mild to asymptomatic.

Muscle tone is usually reduced in those affected . Hearing impairment is caused by abnormalities in the structure of the inner ear. The general physical and intellectual development of patients with Arts syndrome is usually delayed. Affected males increasingly lose their sight in early childhood as the optic nerves degenerate.

causes

Arts syndrome results from genetic mutations in the PRPS1 gene. The Xq22.3 gene locus is specifically affected by the changes. The ribose phosphate diphosphokinase is affected by the gene mutations. Similar reductions in the activity of enzymes also occur in Rosenberg-Chutorian syndrome and in X-linked deafness DFNX1. Arts syndrome is inherited in an X-linked recessive manner.

Symptoms, Ailments & Signs

Arts syndrome manifests itself in patients in early childhood. There are significant differences depending on the sex of the sick child. In girls, Arts syndrome sometimes has no symptoms at all. In some cases, female patients experience hearing loss in adulthood. However, this is often the only symptom.

Arts syndrome, on the other hand, is much more serious in boys. The disease develops in young children 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, vision loss due to optic nerve atrophy, and reduced muscle tone.

Some of the sick children suffer from quadriplegia . Male patients have a greatly increased susceptibility to infections. These primarily affect the respiratory organs and airways. As a result of these common infectious diseases and their complications, the sick boys usually die in infancy.

Diagnose

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

The main difficulty for the doctor is to distinguish Arts syndrome from other diseases with similar symptoms. Because Arts syndrome is so rare, there is an increased risk of confusion with similar disorders. 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, a genetic test is essential for a reliable diagnosis. Laboratory analyzes of the patient’s genes reveal the responsible mutations in the PRPS1 gene.

complications

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

Beyond that, no further complications arise. Boys are more affected by Arts syndrome. Fine motor skills and gross motor skills are severely affected in most male children. Hearing loss also occurs, 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.

Treatment is carried out on boys of all ages in order to reduce their susceptibility to infections. Whether this treatment will be successful cannot be predicted. Complications and other symptoms can also occur later in life that cannot be influenced in childhood.

When should you go to the doctor?

If you suspect that you have 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, the child is found to have reduced intelligence and an increased susceptibility to infections, it may be due to Arts syndrome.

Other warning signs include progressive hearing loss, delayed motor development, and reduced muscle tone. These symptoms usually appear in infancy 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 who have been 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. Especially later in life, further complications can arise that require medical help.

Treatment & Therapy

In principle, a causal treatment of Arts syndrome is not yet possible at the present time. Therefore, the only possible therapy is to alleviate the symptoms of Arts syndrome and thus improve the quality of life of the affected patients. Drug treatment plays an important role, for example in alleviating the frequently occurring acute infections in male patients in infancy.

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

Outlook & Forecast

A causal treatment or complete cure of 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 those affected.

In general, the prognosis in female patients is significantly better than in male patients. So it is not so rare that the female patients in childhood and adolescence show no or only minor symptoms. In adulthood, however, there is a risk that they will lose their ability to hear.

In many male patients, there is a significant restriction of gross motor skills and fine motor skills. In addition, the susceptibility to infection is increased. As a result, many of those affected die in infancy as a result of an infection. There is also a risk of damage to the optic nerve and partial or complete loss of vision.

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

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

prevention

There is still no way to prevent Arts syndrome. Families with cases of illness in their relatives only have the option of taking advantage of genetic counseling when planning a family. Once diagnosed, some of the symptoms of Arts syndrome can be partially alleviated with appropriate symptomatic treatment.

aftercare

Since patients suffering from Arts syndrome usually die in childhood, no follow-up care is necessary. 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 victims. It is also important to determine the cause of the disease.

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

A therapist can provide support here and prescribe calming preparations if necessary. 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 survive the first few days and weeks better.

You can do that yourself

Because Arts syndrome is an inherited genetic disorder, sufferers cannot take self-help measures to treat the underlying condition. However, those affected and their relatives can help to alleviate the symptoms and better cope with the limitations that the disease entails in everyday life.

Those affected often suffer from ataxia, i.e. a disturbance in the coordination of movements, which shows up in the arms and legs and can also impair the ability to speak. Depending on the severity of the ataxia, 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 freedom of movement within your own four walls and enable you to live as independently as possible. In addition, physiotherapeutic measures can help improve coordination. 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, the intellectual abilities of many sufferers of the Arts syndrome are only below average. The parents of affected children should therefore inform educators and teachers about the disease. In addition, it is necessary to take care of a place in a special school or another suitable institution as early as possible, which enables the child concerned to receive optimal support.

Lisa Newlon
Website | + posts

Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.