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Childhood-onset spasticity with hyperglycinemia

Disease definition

Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.

ORPHA:401866

Classification level: Disorder
  • Synonym(s):
    • Childhood-onset spasticity with variant non-ketotic hyperglycinemia
    • Spasticity-ataxia-gait anomalies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E88.8
  • OMIM: 616859
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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