Introduction
Arts syndrome is a condition that results in severe neurological issues in boys. Women can also experience this illness, but their symptoms are usually less severe.
Boys with Arts syndrome experience profound sensorineural hearing loss, characterized by a near-complete or total loss of hearing due to inner ear disorders. The condition also presents with muscle weakness, lack of coordination, developmental delay, and intellectual incapacity. During early life, boys experience vision loss due to the degradation of neurons transmitting information from the eyes to the brain, known as optic nerve atrophy. They also suffer from decreased sensation and muscle weakness in the limbs, known as peripheral neuropathy.
Boys with Arts syndrome typically experience frequent infections, particularly affecting the respiratory system. Affected boys frequently do not live past early childhood due to these illnesses and associated sequelae. Adult-onset hearing loss may be the sole manifestation in females with Arts syndrome.
What Are the Inherited Components of Arts Syndrome?
This condition is transmitted via an X-linked inheritance pattern. The gene implicated in this particular condition is situated on X, one of the sex chromosomes. The disorder is induced in males, who possess a solitary X chromosome, through a mutation occurring in the sole copy of the gene present in each cell. In females, who possess two X chromosomes, symptoms of the disorder may occasionally manifest due to a mutation occurring in one of the two copies of the gene per cell; however, in certain instances, these females remain asymptomatic.
A minority of identified cases of Arts syndrome involve affected individuals inheriting the mutation from a mother carrying a modified copy of the PRPS1 gene.
What Are the Symptoms and Signs?
Symptoms and signs of Arts syndrome may vary from person to person. Generally, symptoms manifest themselves immediately upon birth. The following are some frequent indications and symptoms:
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Hearing impairment.
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Floppiness and weak muscle tone [hypotonia].
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Muscle coordination impairment [ataxia].
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The cause of developmental delay.
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Intellectual impairment.
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Underdevelopment.
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Recurrent infections of the upper respiratory tract.
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Boyhood vision loss is a frequently observed occurrence during early childhood.
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Extremities experiencing a loss of sensation have been reported.
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Boys have a propensity for immune system issues, as previous research indicates they are frequently exposed to infections. Boys who receive an Arts syndrome diagnosis regrettably do not make it past childhood. The reason why individuals with this condition are prone to respiratory infections remains unknown at this time.
What Causes the Diagnosis?
In addition to symptom identification, genetic testing may be utilized to diagnose Arts syndrome in patients who have a familial predisposition or suspicion of the disorder, subjecting themselves to medical examination may also be beneficial. Insufficient quantities of phosphoribosyl pyrophosphate synthetase 1, urinary hypoxanthine, and uric acid have also been identified as indicators of this condition in prior studies. By analyzing the subject's blood or urine, these abnormalities could be detected.
What Is the Treatment Method?
Arts syndrome does not have a single treatment that can alleviate all of its symptoms. The goal of treatment for Arts syndrome is to alleviate the condition's particular symptoms. Arts syndrome is characterized by a propensity for infection susceptibility, profound hearing loss, muscle dysfunction, intellectual disability, nerve dysfunction, and vision impairment. These symptoms are invariably observed in males. Numerous females do not manifest any Arts syndrome symptoms. Females with the symptoms are considerably diminished. Given below are the conditions and the treatment methods to be followed for each conditions:-
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Sensorineural Hearing Loss- Sensorineural hearing loss is the form of hearing impairment associated with Arts syndrome. The ear comprises three distinct components: the middle ear, the outer ear, and the inner ear. The inner ear contains balance and hearing organs. Sensorineural hearing loss is caused by injury to the inner ear or the nerve pathways that supply information from the inner ear to the brain. Treatment for sensorineural hearing loss does not involve surgery or medication. Some sensorineural hearing impaired individuals may benefit from cochlear implants. The word "cochlear" denotes a distinct constituent of the inner ear known as the cochlea. A cochlear implant is an electronic medical device that provides auditory signals to the brain in place of the damaged inner ear. The successful implementation of cochlear implants to enhance the communication abilities diagnosed with Arts syndrome.
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Weakened Muscular Control- Arts syndrome is characterized by hypotonia (decreased muscle tone) and ataxia (impaired muscle control). Ataxia may result in coordination difficulties. Infants and children with Arts syndrome may therefore experience clumsiness and unsteadiness. Physical therapy, occupational therapy, and rehabilitative medicine are utilized to treat ataxia. Arts syndrome in males may result in the need for canes, walkers, and wheelchairs. Boys diagnosed with Arts syndrome suffer from profound intellectual impairments. It is critical that boys diagnosed with Arts syndrome endure a comprehensive evaluation of their cognitive capacities. On the basis of the results of this evaluation, a patient-specific educational support program can be developed.
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Macular Degeneration- No treatment currently exists for optic atrophy or macular degeneration. Boys diagnosed with Arts syndrome, due to their heightened susceptibility to infections, ought to maintain current routine immunization records against childhood illnesses. Additionally, they should receive annual flu vaccines. Medications are frequently prescribed to treat infections, and hospitalization is frequently required. Recurrent infections and hypotonia may contribute to respiratory distress in males diagnosed with Arts syndrome. Eventually, certain patients might necessitate respiratory assistance.
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Purine Production Insufficiency- Arts syndrome can be managed through the administration of S-adenosylmethionine (SAMe), a dietary supplement for purine production insufficiency. SAMe is an endogenous chemical compound present in the majority of body cells and tissues. Boys with Arts syndrome lack the ability to synthesize purines, an essential cellular molecule required for fundamental cellular processes. Supplementation with SAMe might enhance the amount of purines produced by boys with Arts syndrome. Those diagnosed with Arts syndrome experienced a reduction in the frequency of hospitalizations and an improvement in the consistency of their active breathing treatments subsequent to commencing SAMe supplementation.
Conclusion
Arts syndrome is the result of functional changes in PRS-I. ARTS syndrome is an X-linked recessive disorder. The key concern is an elevated susceptibility to infection, leading to both mental and physical issues. It may be passed on from a parent. The lack of purine nucleotides may suggest hearing impairment, thereby reinforcing this concept. Individuals with reduced PRPS activity may have normal serum and urine biochemical markers of PP disorders. The syndrome does not have a definitive treatment, it is managed by dietary products, regular medication to control associated infections.
