Arts syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Arts syndrome | |||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = Arts syndrome is inherited in an [[X-linked recessive]] manner. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Hearing loss]], [[Ataxia]], [[Peripheral neuropathy]], [[Intellectual disability]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| types = | |||
| causes = Mutations in the [[PRPS1]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[Clinical evaluation]] | |||
| differential = [[Charcot-Marie-Tooth disease]], [[Friedreich's ataxia]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[Hearing aids]], [[Physical therapy]] | |||
| medication = | |||
| prognosis = Variable, often severe | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{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}} | ||
== Introduction == | |||
== | |||
'''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. | ||
==Genetics== | ==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. | 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== | ==Clinical Features== | ||
The clinical features of Arts syndrome can vary but typically include: | The clinical features of Arts syndrome can vary but typically include: | ||
* [[Sensorineural hearing loss]] | * [[Sensorineural hearing loss]] | ||
* [[Ataxia]] | * [[Ataxia]] | ||
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* [[Peripheral neuropathy]] | * [[Peripheral neuropathy]] | ||
* [[Optic atrophy]] | * [[Optic atrophy]] | ||
Affected individuals may also experience [[hypotonia]] and [[delayed motor development]]. | Affected individuals may also experience [[hypotonia]] and [[delayed motor development]]. | ||
==Diagnosis== | ==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. | 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== | ==Management== | ||
There is currently no cure for Arts syndrome, and management focuses on symptomatic treatment and supportive care. This may include: | 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 | * [[Hearing aids]] or [[cochlear implants]] for hearing loss | ||
* [[Physical therapy]] for motor difficulties | * [[Physical therapy]] for motor difficulties | ||
* [[Occupational therapy]] to improve daily living skills | * [[Occupational therapy]] to improve daily living skills | ||
==Prognosis== | ==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. | 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. | ||
==See also== | |||
== | |||
* [[X-linked recessive inheritance]] | * [[X-linked recessive inheritance]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
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[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Latest revision as of 17:05, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Arts syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Neurology, Genetics |
| Symptoms | Hearing loss, Ataxia, Peripheral neuropathy, Intellectual disability |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | |
| Causes | Mutations in the PRPS1 gene |
| Risks | |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | Charcot-Marie-Tooth disease, Friedreich's ataxia |
| Prevention | |
| Treatment | Supportive care, Hearing aids, Physical therapy |
| Medication | |
| Prognosis | Variable, often severe |
| Frequency | Rare |
| Deaths | |
A rare genetic disorder affecting the nervous system and other organs
Introduction[edit]
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[edit]
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[edit]
The clinical features of Arts syndrome can vary but typically include:
Affected individuals may also experience hypotonia and delayed motor development.
Diagnosis[edit]
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[edit]
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[edit]
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.
See also[edit]
| Medical genetics | ||||||||||
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