Inherited congenital spastic tetraplegia
Synonyms: Inherited congenital spastic quadriplegia
Inherited congenital spastic tetraplegia is a rare genetic neurological disease characterized by non-progressive variable spastic quadriparesis in multiple members of a family in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia congenital infection). Additional clinical features include congenital hypotonia intellectual disability and developmental delay. Dysphagia dysarthria exotropia nystagmus seizures and brain atrophy with ventriculomegaly may be also present.
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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Inherited congenital spastic tetraplegia?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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