/hereditary spastic paraplegia 43

hereditary spastic paraplegia 43

Rare Disease

MONDO:0014024

Also Known As

C19orf12 autosomal recessive complex spastic paraplegiaSPG43autosomal recessive complex spastic paraplegia caused by mutation in C19orf12autosomal recessive spastic paraplegia 43autosomal recessive spastic paraplegia type 43hereditary spastic paraplegia type 43spastic paraplegia 43, autosomal recessive

Definition

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.