Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spastic paraplegia type 5A is 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Autosomal recessive spastic paraplegia type 5A?
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