Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Synonyms: Autosomal recessive spastic paraplegia type 79
A rare genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness followed by progressive neurological decline that typically includes cerebellar ataxia nystagmus dorsal column dysfunction (decreased vibration and position sense) spastic paraplegia and finally tetraparesis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome?
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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.
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.