Arts syndrome
Arts Syndrome
Arts syndrome (pronounced: /ɑːrts/ syndrome) is a rare genetic disorder that primarily affects males. It is characterized by sensorineural hearing loss, ataxia, intellectual disability, and loss of vision caused by optic atrophy.
Etymology
The syndrome is named after the Dutch pediatrician, Dr. P.A. Arts, who first described the condition in 1993.
Symptoms
The primary symptoms of Arts syndrome include:
- Sensorineural hearing loss: This is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
- Ataxia: This is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements.
- Intellectual disability: This is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
- Optic atrophy: This is the end result of any disease that damages nerve cells anywhere between the retinal ganglion cells and the lateral geniculate body (anterior visual system).
Causes
Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for producing an enzyme that is involved in the production of certain molecules, including those used to make DNA, RNA, and ATP (adenosine triphosphate), the body's main energy source.
Treatment
There is currently no cure for Arts syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and improving the quality of life for those affected.
See also
References
- National Organization for Rare Disorders. (n.d.). Arts Syndrome. Retrieved from https://rarediseases.org/rare-diseases/arts-syndrome/
- Genetics Home Reference. (n.d.). PRPS1 gene. Retrieved from https://ghr.nlm.nih.gov/gene/PRPS1
External links
- Medical encyclopedia article on Arts syndrome
- Wikipedia's article - Arts syndrome
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