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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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.