Spastic paraplegia 92, autosomal recessive

Autosomal recessive spastic paraplegia-92 (SPG92) is a slowly progressive neurodegenerative disorder with onset of lower limb spasticity and gait abnormalities in the first (more common) or second decade of life. More variable features include upper limb involvement, tremor, urinary urgency, muscle weakness and atrophy, and mild peripheral neuropathy. Mild cognitive deficits have been reported in some patients (Rebelo et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. [from OMIM]