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Hereditary spastic paraplegia 5A

MONDO:0010047

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: CYP7B1 pure or complex autosomal recessive spastic paraplegia, SPG5A, autosomal recessive spastic paraplegia type 5A, hereditary spastic paraplegia type 5A, pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1, spastic paraplegia type 5B, recessive, autosomal recessive spastic paraplegia, spastic paraplegia 5A

49 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Neurodegenerative disease (155) Neuromuscular disease (98) Central nervous system disorder (97) Inborn errors of metabolism (42) Paraplegia (37)
Trials to join now! 21 Not yet recruiting 6 Not yet finished but already full! 5 Completed 17
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