Hereditary spastic paraplegia

Abstract

Publisher Summary This chapter describes hereditary spastic paraplegia (HSP) or the Strumpell–Lorrain syndrome, which is the heterogeneous group of clinically and pathologically related inherited disorders where the main clinical feature is progressive bilateral lower limb spasticity and weakness. HSP is a genetically and clinically diverse group of disorders whose primary feature is progressive spasticity and pyramidal weakness of the lower extremities. HSP might be more prevalent than estimated because of incomplete ascertainment of cases. The condition arises because of degeneration of the longest motor and sensory axons in the spinal cord. The clinical picture is dependent on whether the disorder is pure or complicated. The diagnosis is still clinical and based on the exclusion of other similarly presenting disorders. Investigations help in excluding other disorders rather than confirming the diagnosis. Genetic molecular testing plays a role in the diagnosis but is still far from being comprehensive. Therapy is mainly supportive, aiming at the maintenance of ambulation as much as possible.