ARTS syndrome: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 3: | Line 3: | ||
==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. | 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> | ||
==Symptoms== | ==Symptoms== | ||
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