Arts syndrome is a disease that, according to previous findings, is enormously rare. Only a few families are known to have Arts syndrome. Arts syndrome exists from birth and has genetic causes. The main symptoms of the disease consist of 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. Arts, a neurologist, first described the condition in 1993 in the Netherlands. The incidence of Arts syndrome is very rare and is currently estimated to have a prevalence of less than 1:1,000,000. Currently, only a few families are known to have had Arts syndrome. In one family, the disease was found in 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 course. A typical feature of Arts syndrome is ataxia, which is manifested in both the upper and lower limbs. In addition, the affected individuals suffer from congenital hypotonia. In addition, hearing is impaired in patients, intellectual abilities are below average, and there is optic atrophy. Significant is the different course of the disease in the sexes. For example, Arts syndrome is much more severe in male than in female patients. The affected boys 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. Muscle tone is usually reduced in those with the disease. Impaired 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 affected individuals progressively lose their vision in early childhood as the optic nerves degenerate.
Causes
Arts syndrome results from genetic mutations on the PRPS1 gene. Specifically, gene locus Xq22.3 is affected by the changes. As a result of the gene mutations, ribose phosphate diphosphokinase is impaired. Similar reductions in enzyme activity also occur in Rosenberg-Chutorian syndrome and DFNX1 x-linked deafness. The mode of inheritance of Arts syndrome is x-linked recessive.
Symptoms, complaints, and signs
Arts syndrome manifests in patients in early childhood. There are significant differences depending on the sex of the affected child. In girls, Arts syndrome sometimes progresses completely without symptoms. In some cases, female patients experience a loss of hearing in adulthood. However, this is often the only symptom. 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 due to optic atrophy, and reduced muscle tone. In some cases, the affected children suffer from quadriplegia. The male patients show a strongly increased susceptibility to infections. These mainly affect the respiratory organs and airways. As a result of these frequent infectious diseases and their complications, the diseased boys usually die in infancy.
Diagnosis
The diagnosis of Arts syndrome is usually made by an adequate specialist in a specialized center for rare genetic diseases. First, a history is taken with the affected infant or toddler and the caregivers. The symptoms shown, their onset and possible cases of the disease in the close relatives are important here. The main difficulty for the physician 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 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. Laboratory analysis of the patient’s genes reveals the responsible mutations on the PRPS1 gene.
Complications
The complications of Arts syndrome are highly dependent on the sex of the patient and occur more frequently, especially in children. As a rule, complications rarely occur in girls. However, this may involve hearing impairment at an older age. Beyond that, no other complications occur. Boys are more affected by Arts syndrome. In most male children, fine motor skills and gross motor skills are severely affected. Hearing loss also occurs, but at a young age. The eyes may 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 causes death in childhood due to various infections and inflammations. A specific treatment of the syndrome is not possible. However, it is possible to combat the symptoms. In this case, treatment is carried out especially in boys in childhood in order to reduce the susceptibility to infections. Whether this treatment is successful cannot be predicted. Likewise, complications and other symptoms may occur later in life that cannot be influenced in childhood.
When should you see a doctor?
If Arts syndrome is suspected, the pediatrician should be consulted. Since the syndrome is a rare hereditary disease, parents who themselves suffer from the disease should pay particular attention to the clinical criteria. For example, if a child is found to have reduced intelligence and an increased tendency to infection, it may be Arts syndrome. Other warning signs include increasing hearing loss, delayed motor development and decreased muscle tone. These symptoms usually appear in infancy and are indicative of a serious condition. Whether it is Arts syndrome or another gene mutation can be determined at a specialty center for rare genetic diseases. Patients diagnosed with Arts syndrome should consult regularly with the appropriate physician. Unusual symptoms or particularly severe complaints should be clarified in the specialist clinic and treated if necessary. Additional complications may arise, especially later in life, that require medical attention.
Treatment and therapy
Basically, causal treatment of Arts syndrome is not yet possible at the present time. Therefore, the only possibility of therapy is to alleviate the symptoms of Arts syndrome and thus improve the quality of life of the diseased patients. Drug treatment plays an important role, for example, in alleviating the frequently occurring acute infections of male patients in infancy. It is also important to make genetic counseling available to affected families. In male patients, the prognosis of Arts syndrome is very unfavorable. Thus, affected individuals survive infancy only in exceptional cases. Therefore, adequate palliative care for the children is also significant.
Outlook and prognosis
Causative treatment or complete cure of Arts syndrome is not possible according to the current state of medicine. However, symptoms can be alleviated, which may lead to a noticeable improvement in the quality of life of affected individuals. In general, the prognosis is much more favorable in female patients than in male patients. Thus, it is not at all uncommon for female patients to show no symptoms at all or only minor symptoms during childhood and adolescence. In adulthood, however, there is a risk that they will lose their hearing. In many male patients, there is a marked limitation of gross motor skills and fine motor skills. In addition, the susceptibility to infections 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.Medication is used to alleviate the symptoms. In addition, the ability to move can be maintained for longer through physiotherapeutic measures. Parents who suspect that their child may be affected by Arts syndrome should consult their pediatrician as soon as possible. He can decide what measures to initiate in the specific case.
Prevention
There is no possibility of prevention of Arts syndrome yet. Families with cases of the disease in their relatives only have the option of seeking genetic counseling during family planning. Once diagnosed, some of the symptoms of Arts syndrome can be partially alleviated using appropriate symptomatic treatment measures.
Follow-up
Because patients suffering from Arts syndrome usually die in childhood, no follow-up care is necessary. The parents and relatives of affected children usually require psychological support. The stroke of fate can be worked through in the context of trauma therapy and in discussions with other affected persons. In addition, the cause of the disease must be determined. Often the doctor will order a genetic examination and in the course of this determine in connection with which disease the gene mutation has occurred. Parents should seek genetic counseling if a new pregnancy is planned. Follow-up care also includes general measures such as exercise and distraction. Especially in the first days and weeks after the birth and death of the child, relatives often find it difficult to find distraction. A therapist can provide support here and prescribe calming preparations if necessary. Which measures are useful in detail depends on the individual situation and should always be discussed with the responsible physician. Since the fatal course of the disease is to be expected, preparatory measures can be taken even before the birth of the child to better survive the first days and weeks.
What you can do yourself
Because Arts syndrome is a genetic inherited disorder, affected individuals cannot take self-help measures to treat the underlying condition. However, affected individuals and their families can help alleviate symptoms and better manage the limitations associated with the disease in everyday life. Those affected often suffer from ataxia, i.e. a disturbance in the coordination of movement, which 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 use canes, other walking aids or a wheelchair to maintain their mobility, at least to some extent. Stair lifts and special devices for the bathtub can increase freedom of movement within the patient’s own four walls and enable them to live as independently as possible. In addition, physiotherapeutic measures can help to improve coordination skills. In the case of speech disorders, a speech therapist should be consulted at an early stage. Regular, targeted speech exercises can improve speech ability. In addition, the intellectual abilities of many children affected by Arts syndrome are developed at a below-average level. Parents of affected children should therefore inform educators and teachers about the disease. In addition, it is necessary to arrange as early as possible for a place in a special school or other suitable institution that will provide the affected child with optimal support.
