Disease association ontology term - MONDO:0012866 - hereditary spastic paraplegia 35
Term summary
- ID
- MONDO:0012866
- Name
- hereditary spastic paraplegia 35
- Ontology or CV name
- Disease association
- Definition
- Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
