hereditary spastic paraplegia 73
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.
MONDO:0015149
pure hereditary spastic paraplegia
is_a
CPT1C autosomal dominant pure spastic paraplegia
exact
SPG73
exact
autosomal dominant pure spastic paraplegia caused by mutation in CPT1C
exact
autosomal dominant spastic paraplegia type 73
exact
hereditary spastic paraplegia type 73
exact
spastic paraplegia 73, autosomal dominant
related