Hereditary spastic paraplegia 73
Hereditary spastic paraplegia 73
Definition
Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
Also known as autosomal dominant pure spastic paraplegia caused by mutation in CPT1C, autosomal dominant spastic paraplegia type 73, CPT1C autosomal dominant pure spastic paraplegia, hereditary spastic paraplegia type 73, SPG73 — per MONDO