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Autosomal recessive spastic paraplegia type 14
Disease definition
Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.
ORPHA:100995
Classification level: DisorderDetailed information
Article for general public
Professionals
- Clinical genetics review
- English (2021)
- Disability factsheet
- Français (2018, pdf)
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