Childhood-onset spasticity with hyperglycinemia
Synonyms: Childhood-onset spasticity with variant non-ketotic hyperglycinemia | Spasticity-ataxia-gait anomalies syndrome
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.
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 June 2023.
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Childhood-onset spasticity with hyperglycinemia?
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