Arts syndrome
MeSH: C535388ORPHA: 1187
Overview
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Arts syndrome, sourced from HPO and Orphanet clinical annotations.
Visual impairmentBlindnessOptic atrophyMuscle weaknessMutismRecurrent infectionsRecurrent upper respiratory tract infectionsDecreased motor nerve conduction velocityEMG: chronic denervation signsSevere demyelination of the white matterAbnormality of somatosensory evoked potentialsCongenital sensorineural hearing impairmentAbnormal erythrocyte enzyme concentration or activitySevere infectionNeck muscle weaknessNystagmusAtaxiaMild intellectual disabilityMotor delayAreflexiaModerate intellectual disabilityTetraplegiaHypouricemiaRespiratory failure requiring assisted ventilationSpinal cord dorsal column hypomyelinationAxial hypotoniaPeripheral neuropathyEEG with focal epileptiform dischargesProfound sensorineural hearing impairmentAppendicular hypotonia
Classification & Codes
MeSH Code
C535388Orphanet Code
ORPHA:1187Arts syndrome
| MeSH | C535388 |
| Orphanet | ORPHA:1187 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO