Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Spastic paraplegia 5A
Spastic paraplegia 5A
Alternative Names: SPG5A
Disease Category: Spastic Paraplegia
Spastic paraplegia type 5A (SPG5A) is an autosomal recessive form of hereditary spastic paraplegia caused by biallelic pathogenic variants in CYP7B1. The condition displays wide clinical variability, ranging from a pure form with isolated lower-limb spasticity to a complex presentation that may include optic atrophy, cerebellar ataxia, bladder dysfunction, and distal sensory impairment.
Research groups studying this disease
Spastic Paraplegia
Spastic Paraplegia Centers of Excellence Research Network (SP-CERN)