/hereditary spastic paraplegia 5A

hereditary spastic paraplegia 5A

Rare Disease

MONDO:0010047

Also Known As

CYP7B1 pure or complex autosomal recessive spastic paraplegiaSPG5Aautosomal recessive spastic paraplegia 5Aautosomal recessive spastic paraplegia type 5Ahereditary spastic paraplegia type 5Apure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1spastic paraplegia type 5B, recessiveautosomal recessive spastic paraplegiaspastic paraplegia 5Aspastic paraplegia 5A, autosomal recessivespastic paraplegia type 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.