Autosomal dominant spastic paraplegia type 6

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Autosomal dominant spastic paraplegia type 6

Synonyms: SPG6

A rare pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses as well as mild bladder disturbances and pes cavus. Rarely it can present as a complex phenotype with additional manifestations including epilepsy variable peripheral neuropathy and/or memory impairment.

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 April 2024

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Autosomal dominant spastic paraplegia type 6?

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