General Information of Disease (ID: DISY0R2F)

Disease Name SPAST-related motor disorder
Definition
Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISEP2HK: Central and peripheral nervous disease
DISY0R2F: SPAST-related motor disorder