Details of Disease
General Information of Disease (ID: DISY0R2F)
Disease Name | SPAST-related motor disorder | ||||
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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,
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