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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.


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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