/hereditary spastic paraplegia 41

hereditary spastic paraplegia 41

Rare Disease

MONDO:0013239

Also Known As

SPG41autosomal dominant spastic paraplegia 41autosomal dominant spastic paraplegia type 41hereditary spastic paraplegia type 41spastic paraplegia 41, autosomal dominant

Definition

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.