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Autosomal dominant spastic paraplegia type 10
Disease definition
A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
ORPHA:100991
Classification level: DisorderDetailed information
Article for general public
Professionals
- Summary information
- Polski (2017, pdf)
- Clinical genetics review
- English (2018)
- Disability factsheet
- Français (2018, pdf)
Additional information
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