/hereditary spastic paraplegia 73

hereditary spastic paraplegia 73

Rare Disease

MONDO:0014568

Also Known As

CPT1C autosomal dominant pure spastic paraplegiaSPG73autosomal dominant pure spastic paraplegia caused by mutation in CPT1Cautosomal dominant spastic paraplegia 73autosomal dominant spastic paraplegia type 73hereditary spastic paraplegia type 73spastic paraplegia 73, autosomal dominant

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.