hereditary spastic paraplegia 42

A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.

Signs and symptoms

• Skeletal muscle atrophy
• Pes cavus
• Babinski sign
• Lower limb hyperreflexia
• Spastic gait
• Spastic paraplegia
• Muscle weakness

Also known as: SPG42; autosomal dominant spastic paraplegia 42; autosomal dominant spastic paraplegia type 42