ARTS syndrome
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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