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Autosomal dominant spastic paraplegia type 9B

ORPHA:447757· ICD-10 G11.4

Definition

A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Infancy