Autosomal dominant spastic paraplegia type 10

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Autosomal dominant spastic paraplegia type 10

Synonyms: SPG10

A rare hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity hyperreflexia and extensor plantar responses presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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