Autosomal dominant spastic paraplegia type 42 (Q100876)

Autosomal dominant spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood. Patients present with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and rarely, pes cavus.