Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
ARTS syndrome
Introduction
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.[1]
Symptoms
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]