Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs short stature delayed psychomotor development intellectual disability and less commonly foot contractures dysarthria dysphagia strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
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 March 2024
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Autosomal recessive spastic paraplegia type 54?
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