Disease association ontology term - MONDO:0011408 - hereditary spastic paraplegia 10
Term summary
- ID
- MONDO:0011408
- Name
- hereditary spastic paraplegia 10
- Ontology or CV name
- Disease association
- Definition
- Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
