Overview
Clinical overview and emergency guidance are pending physician authorship. Graph-derived data (ontology codes, linked conditions, diagnostic biomarkers) is available below.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay
CARASIL syndrome
Frequent (30-79%)
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Frequent (30-79%)
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy
Very frequent (80-99%)
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome
Frequent (30-79%)
Spastic ataxia with congenital miosis
Frequent (30-79%)
AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Childhood-onset spasticity with hyperglycinaemia
ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy
Very frequent (80-99%)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Frequent (30-79%)
Autosomal recessive spastic ataxia type 4
Autosomal dominant spastic ataxia type 1
Frequent (30-79%)
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome
Very frequent (80-99%)
Autosomal recessive spastic paraplegia type 76
Always present (100%)
Spinocerebellar ataxia type 42
Quick Facts
- SNOMED CT
- 1119357005
- UMLS CUI
- C1849156
- Fully Specified Name
- Spastic ataxia (finding)
- Associated Conditions
- 15
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.