Arts syndrome: Difference between revisions
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{{Short description|A rare genetic disorder affecting the nervous system and other organs}} | {{Short description|A rare genetic disorder affecting the nervous system and other organs}} | ||
==Overview== | ==Overview== | ||
'''Arts syndrome''' is a rare [[genetic disorder]] that primarily affects males. It is characterized by a combination of [[neurological]], [[developmental]], and [[metabolic]] abnormalities. The syndrome is caused by mutations in the [[PRPS1]] gene, which is located on the X chromosome, and follows an [[X-linked recessive]] inheritance pattern. | '''Arts syndrome''' is a rare [[genetic disorder]] that primarily affects males. It is characterized by a combination of [[neurological]], [[developmental]], and [[metabolic]] abnormalities. The syndrome is caused by mutations in the [[PRPS1]] gene, which is located on the X chromosome, and follows an [[X-linked recessive]] inheritance pattern. | ||
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* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Neurological disorders]] | * [[Neurological disorders]] | ||
{{Medical genetics}} | |||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Revision as of 18:32, 15 February 2025
A rare genetic disorder affecting the nervous system and other organs
Overview
Arts syndrome is a rare genetic disorder that primarily affects males. It is characterized by a combination of neurological, developmental, and metabolic abnormalities. The syndrome is caused by mutations in the PRPS1 gene, which is located on the X chromosome, and follows an X-linked recessive inheritance pattern.
Genetics
Arts syndrome is caused by mutations in the PRPS1 gene, which encodes the enzyme phosphoribosyl pyrophosphate synthetase 1. This enzyme is crucial for the synthesis of purines, which are essential components of DNA and RNA. Mutations in this gene lead to a deficiency in enzyme activity, resulting in impaired purine synthesis and the clinical manifestations of the syndrome.
Clinical Features
The clinical features of Arts syndrome can vary but typically include:
Affected individuals may also experience hypotonia and delayed motor development.
Diagnosis
Diagnosis of Arts syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the PRPS1 gene. Audiometry and neurological examination are often part of the diagnostic process.
Management
There is currently no cure for Arts syndrome, and management focuses on symptomatic treatment and supportive care. This may include:
- Hearing aids or cochlear implants for hearing loss
- Physical therapy for motor difficulties
- Occupational therapy to improve daily living skills
Prognosis
The prognosis for individuals with Arts syndrome varies depending on the severity of symptoms. Early intervention and supportive therapies can improve quality of life, but the condition is progressive and can lead to significant disability.
Related pages
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