Arts syndrome

Synonyms

3

Overview

Arts syndrome (ARTS) is a disorder that causes serious neurological problems and immune system problems in males. in males. Females can also be affected by this condition, but they typically have much milder symptoms.

Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).

Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.

In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.

Symptoms

Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).

Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.

Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases, hearing loss that begins in adulthood may be the only symptom.

Symptoms:

  • Abnormality of immune system physiology
  • Cognitive impairment
  • Decreased nerve conduction velocity
  • Hemiplegia/hemiparesis
  • Incoordination
  • Muscular hypotonia
  • Optic atrophy
  • Peripheral neuropathy
  • Sensorineural hearing impairment
  • Visual impairment
  • Absent reflexes
  • Reduced reflexes
  • Hearing loss
  • Optic disc anomaly
  • Optic disk atrophy
  • Leg weakness
  • Arm weakness
  • Recurring infections
  • Severe vision loss
  • Intellectual deficit
  • Ataxia
  • Delayed motor development
  • Hearing impairment
  • Hypotonia

Causes

Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.

The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome.

Resources

  • NIH
  • Genetics Home Reference