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Inherited congenital spastic tetraplegia

Disease definition

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.

ORPHA:210141

  • Synonym(s):
    • Inherited congenital spastic quadriplegia
    • Spastic quadriplegic cerebral palsy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.4
  • OMIM: 603513  612900  617008
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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