hereditary spastic paraplegia 5A https://www.malacards.org/card/spastic_paraplegia_5a_autosomal_recessive pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1 hereditary spastic paraplegia type 5A autosomal recessive spastic paraplegia type 5A spastic paraplegia type 5B, recessive spastic paraplegia 5A, autosomal recessive A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. MONDO:0010047 GARD:0004926 CYP7B1 pure or complex autosomal recessive spastic paraplegia SPG5A Orphanet:100986 SCTID:763373005 DOID:0110810 spastic paraplegia 5A autosomal recessive spastic paraplegia spastic paraplegia type 5A UMLS:C1849115 OMIM:270800 MEDGEN:376521 hereditary spastic paraplegia CYP7B1-related disorder of oxysterol accumulation Autosomal recessive spastic paraplegia type 5A