Autosomal spastic paraplegia type 30

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Autosomal spastic paraplegia type 30

Synonyms: SPG30

A rare pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype usually presenting in the first or second decade of life with spastic lower extremities unsteady spastic gait hyperreflexia and extensor plantar responses or as a complicated phenotype with the additional manifestations of distal wasting saccadic ocular movements mild cerebellar ataxia and mild distal axonal neuropathy.

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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Autosomal spastic paraplegia type 30?

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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.