hereditary spastic paraplegia 5A
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:0019064
hereditary spastic paraplegia
is_a
MONDO:1060107
CYP7B1-related disorder of oxysterol accumulation
is_a
CYP7B1 pure or complex autosomal recessive spastic paraplegia
exact
SPG5A
exact
autosomal recessive spastic paraplegia
related
autosomal recessive spastic paraplegia type 5A
exact
hereditary spastic paraplegia type 5A
exact
pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1
exact
spastic paraplegia 5A
related
spastic paraplegia 5A, autosomal recessive
related
spastic paraplegia type 5A
related
spastic paraplegia type 5B, recessive
exact