Disease association ontology term - MONDO:0014882 - hereditary spastic paraplegia 77
Term summary
- ID
- MONDO:0014882
- Name
- hereditary spastic paraplegia 77
- Ontology or CV name
- Disease association
- Definition
- Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
