ARTS syndrome: Difference between revisions
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Created page with "__NOTOC__ {{CMG}} {{AE}} {{RT}} ==Overview== ARTS syndrome is an X linked PRPS1-related disorder. Females are carriers. Males inheriting the gene will be affected. Males w..." |
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__NOTOC__ | __NOTOC__ | ||
{{CMG}} {{AE}} {{RT}} | {{CMG}} {{AE}} {{RT}} | ||
==Overview== | ==Overview== | ||
ARTS syndrome is an X linked PRPS1-related disorder. Females are carriers. Males inheriting the gene will be affected. Males with Arts syndrome do not reproduce.<ref name="pmid20301738">{{cite journal |author=Pagon RA, Bird TD, Dolan CR, ''et al.'' |title= |journal= |volume= |issue= |pages= |year= |pmid=20301738 |doi= |url=}}</ref> | |||
ARTS syndrome is an X linked PRPS1-related disorder. Females are carriers. Males inheriting the gene will be affected. Males with Arts syndrome do not reproduce. | |||
==Symptoms== | ==Symptoms== | ||
ARTS syndrome is characterized by | ARTS syndrome is characterized by | ||
* Profound congenital sensorineural hearing impairment, | * Profound congenital sensorineural hearing impairment, | ||
* Early-onset hypotonia, | * Early-onset hypotonia, | ||
* Delayed motor development, | * Delayed motor development, | ||
* Mild to moderate intellectual disability, | * Mild to moderate intellectual disability, | ||
* Ataxia, and | * Ataxia, and | ||
* Increased risk of infection, | * Increased risk of infection, | ||
All these features (with the exception of optic atrophy) present before age two years. Signs of peripheral neuropathy develop during early childhood. | All these features (with the exception of optic atrophy) present before age two years. Signs of peripheral neuropathy develop during early childhood. | ||
==Treatment== | ==Treatment== | ||
* Educational programs | * Educational programs | ||
* Cochlear implants for hearing impairment | * Cochlear implants for hearing impairment | ||
* Supportive therapy | * Supportive therapy | ||
Routine immunizations against common childhood infections and annual influenza immunization are necessary. | Routine immunizations against common childhood infections and annual influenza immunization are necessary. | ||
Regular neuropsychological, audiologic, and ophthalmologic examinations to be scheduled. | Regular neuropsychological, audiologic, and ophthalmologic examinations to be scheduled. | ||
Latest revision as of 05:10, 24 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
ARTS syndrome is an X linked PRPS1-related disorder. Females are carriers. Males inheriting the gene will be affected. Males with Arts syndrome do not reproduce.[1]
Symptoms
ARTS syndrome is characterized by
- Profound congenital sensorineural hearing impairment,
- Early-onset hypotonia,
- Delayed motor development,
- Mild to moderate intellectual disability,
- Ataxia, and
- Increased risk of infection,
All these features (with the exception of optic atrophy) present before age two years. Signs of peripheral neuropathy develop during early childhood.
Treatment
- Educational programs
- Cochlear implants for hearing impairment
- Supportive therapy
Routine immunizations against common childhood infections and annual influenza immunization are necessary. Regular neuropsychological, audiologic, and ophthalmologic examinations to be scheduled.
References