autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
MeSH: C537310ORPHA: 95434
Overview
human disease
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 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, sourced from HPO and Orphanet clinical annotations.
Gait ataxiaLimb ataxiaProgressive cerebellar ataxiaTruncal ataxiaAbnormal lower motor neuron morphologyUpper motor neuron dysfunctionSomatic sensory dysfunctionAbnormal pyramidal signAbnormal visual fixationAbnormality of eye movementAbnormal saccadic eye movementsDysarthriaPes cavusUnsteady gaitFasciculationsSensorimotor neuropathyHypermetric saccadesDyslexiaImpaired proprioceptionMyoclonus
Classification & Codes
MeSH Code
C537310Orphanet Code
ORPHA:95434autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
| MeSH | C537310 |
| Orphanet | ORPHA:95434 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO