hereditary spastic paraplegia 43
Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
C19orf12 autosomal recessive complex spastic paraplegia
exact
SPG43
exact
autosomal recessive complex spastic paraplegia caused by mutation in C19orf12
exact
autosomal recessive spastic paraplegia type 43
exact
hereditary spastic paraplegia type 43
exact
spastic paraplegia 43, autosomal recessive
related