Spastic paraplegia-nephritis-deafness syndrome
Synonyms: Fitzsimmons-Walson-Mellor syndrome | Spastic paraplegia-nephritis-hearing loss syndrome
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive variable spastic paraplegia associated with bilateral sensorineural deafness intellectual disability and progressive nephropathy. There have been no further descriptions in the literature since 1988.
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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Spastic paraplegia-nephritis-deafness syndrome?
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Advocacy Organizations
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
Clinical Trials
For a list of clinical trials in this disease area, please click here.