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Autosomal recessive spastic paraplegia type 14

ORPHA:100995· ICD-10 G11.4

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.

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