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Autosomal recessive spastic paraplegia type 59

ORPHA:401795· ICD-10 G11.4

Definition

A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy