Spastic paraplegia 30b, autosomal recessive

Autosomal recessive spastic paraplegia-30B (SPG30B) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia with variable age of onset, but usually in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Most patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes peripheral sensorimotor neuropathy, distal muscle atrophy of the lower limbs, saccadic ocular pursuit, urinary sphincter problems, and/or mild cerebellar signs and symptoms. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system (Klebe et al., 2006; Erlich et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]