spinocerebellar ataxia type 1 with axonal neuropathy
MeSH: C537313ORPHA: 94124
Overview
nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11
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 spinocerebellar ataxia type 1 with axonal neuropathy, sourced from HPO and Orphanet clinical annotations.
Gaze-evoked nystagmusAtaxiaAreflexiaPes cavusImpaired vibration sensation in the lower limbsGlobal brain atrophySpastic dysarthriaSpinocerebellar tract degenerationHypoalbuminemiaHypercholesterolemiaSteppage gaitDistal amyotrophyCerebellar vermis atrophyImpaired distal proprioceptionPain insensitivitySensorimotor neuropathyDistal lower limb muscle weaknessPeripheral neuropathySeizure
Classification & Codes
MeSH Code
C537313Orphanet Code
ORPHA:94124spinocerebellar ataxia type 1 with axonal neuropathy
| MeSH | C537313 |
| Orphanet | ORPHA:94124 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO