Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia 5A
Definition
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.
Also known as autosomal recessive spastic paraplegia type 5A, CYP7B1 pure or complex autosomal recessive spastic paraplegia, hereditary spastic paraplegia type 5A, pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1, spastic paraplegia type 5B, recessive, SPG5A — per MONDO